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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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17p112

17p11.2
  • Babovic-Vuksanovic D, Jalal S M, Garrity J A, Robertson D M, Lindor N M.: Visual impairment due to macular disciform scars in a 20-year-old man with Smith-Magenis syndrome: another ophthalmologic complication. AJMG 80:373-376, 1998. [PubMed: 9856566]
    46,XY,del(17)(p11.2p11.2).ish del(17)(D17S29-)
    He had brachycephaly, overfolded ears, prominent supraorbital ridges, midface hypoplasia, synophrys, and subretinal scars involving each macula.
    Aberration: Interstitial deletion
    MIM#: 182290
    Chromosomal Aneuploidy: 17p-
    Index Terms: Smith-Magenis syndrome,macular disciform scars,synophrys
  • Barnicoat A J, Docherty Z, Bobrow M: Where have all the fragile X boys gone? Develop. Med. Child Neurol. 35:532-539, 1993. [PubMed: 7684989]
    46,XY,fra(10)(q23)del(17)(p11.2p11.2).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 17p-
    Negative band
  • Behjati F, Mullarkey M, Bergbaum A, Berry A C, Docherty Z.: Chromosome deletion 17p11.2 (Smith-Magenis syndrome) in seven new patients, four of whom had been referred for fragile-X investigation. Clin. Genet. 51:71-74, 1997. [PubMed: 9084941]
    Berry A C, Docherty Z, Bobrow M: Abnormal chromosome complement after normal amniocentesis result. Lancet 340:1361, 1992. [PubMed: 1360083]
    Case 1.
    46,XY,del(17)(p11.2p11.2 or p12).
    The baby was abnormal and rekaryotyping showed the chromosome defect.
    Patients 1 through 7:
    46,XX and XY,del(17)(p11.2p11.2) or (p11.2p12)de novo.
    The ages range from birth to 8 years at the time of ascertainment. There were 4 males and three females.
    Aberration: Interstitial deletion
    MIM#: 182290
    Chromosomal Aneuploidy: 17p-
    Negative band
  • Bernard R, Boyer A, Negre P, Malzac P, Latour P, Vandenberghe A, Philip N, Levy N.: Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders. Europ. J. Hum. Genet. 10:297-302, 2002. [PubMed: 12082504]
    Bernard R, Labelle V, Negre P, Tardieu S, Azulay J-P, Malzac P, Matt+¬i J-F, Leguern E, Philip N, L+¬vy N.: Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A. Eur. J. Hum. Genet. 8:229-235, 2000. [PubMed: 10780790]
    Aberration: Duplication
    MIM#: 118220
    Chromosomal Aneuploidy: 17p+
    Index Terms: Charcot-Marie-Tooth disease (CMT1A)
  • Bidichandani S I, Baldini A, Patel P I.: Reply to Callen. AJHG 63:270, 1998.
    Bi W, Park S-S, Shaw C J, Withers M A, Patel P I, Lupski J R.: Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. AJHG DOI=0002-9297/2003/7306-0010; 73:1302-1315, 2003. [PMC free article: PMC1180396] [PubMed: 14639526]
    Callen D F.: Alternative interpretation of reported paracentric inversion. AJHG 63:269-270, 1998. [PMC free article: PMC1377226] [PubMed: 9634503]
    Yang S P, Bidichandani S I, Figuera L E, Juyal R C, Saxon P J, Baldini A, Patel P I.: Molecular analysis of deletion (17)(p11.2p11.2) in a family segregating a 17p paracentric inversion: implications for carriers of paracentric inversions. AJHG 60:1184-1193, 1997. [PMC free article: PMC1712444] [PubMed: 9150166]
    35 SMCs derived from all the human chromosomes, except 6, were studied.
    In nine cases without an aberrant phenotype, neither partial proximal trisomies nor UPD could be detected. Small proximal trisomies of 1p, 1q, 2p, 6p, 6q, 7q, 9p, and 12q seem to lead to clinical manifestations, whereas partial proximal trisomies of 2q, 3p, 3q, 5q, 7p, 8p, 17p, and 18p may not be associated with significant clinical symptoms.
    Propositus (PAT42):
    46,XY,del(17)(p11.2p11.2);,Father and his two sisters:46,XX and XY,inv(17)(p11.2p13)
    Family ascertained because of the infant with MCA.
    The deletion was of paternal origin. The alternative explanation offered suggests that there might have been a direct or inverted intrachromosomal insertion in the father.
    Aberration: IP,ID
    MIM#: 182290
    Chromosomal Aneuploidy: 17p-
    No band
  • Bort S, Martinez F, Palau F.: Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A. AJHG 60:230-233, 1997. [PMC free article: PMC1712552] [PubMed: 8981968]
    49/75 unrelated families were found to have the duplication.
    RFLP probes used were: VAW409R3a(D17S122), VAW412R3HE b and c(D17S125), EW401(D17S61), and the microsatellite marker RM11-GT( D17S122).
    Aberration: Duplication
    MIM#: 118220
    Chromosomal Aneuploidy: 17p+
    Index Terms: CMT1A
    Negative band
  • Brice A, Ravise N, Stevanin G, Gugenheim M, Bouche P, Penet C, Agid Y, French CMT research group: Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. J. Med. Genet. 29:807-812, 1992. [PMC free article: PMC1016177] [PubMed: 1453432]
    Families 254, 256, 260-1, 263-4, 272, 274, 281, 283-5.
    46,XX and XY,dup(17)\p11.2-D17S61(EW401), D17S122(VAW409R3a and RM11-GT), and D17S125(VAW412R3)\.
    Aberration: Duplication
    MIM#: 118220
    Chromosomal Aneuploidy: 17p+
    Negative band
  • Brown A, Phelan M C, Patil S, Crawford E, Rogers R C, Schwartz C.: Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion? AJMG 63:373-377, 1996. [PubMed: 8725788]
    Patients J.M. and H.G.
    46,XY,dup(17)(p11.2p11.2)de novo.
    Both patients have developmental delay.
    The duplicated region included that of the markers D17S29, D17S258, D17S71, and D17S445.
    Aberration: Duplication
    Chromosomal Aneuploidy: 17p+
    Negative band
  • Cabral de Almeida J C, Fagundes Reis D, Martins R R: Interstitial deletion of (17)(p11.2). A microdeletion syndrome. Another example. Ann. Genet. 32:184-186, 1989. [PubMed: 2817780]
    Patient BPTC was 3 1/3 years old.
    46,XY,del(17)(p11.2)de novo.
    Features present included psychomotor retardation, broad face, midface hypoplasia, prognathism, and behavioral anomalies.
    It is suggested that this new microdeletion syndrome may not be so rare.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 17p-
    Index Terms: Microdeletion syndrome
    Negative band
  • Chen K S, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault A C, Lee C C, Lupski J R.: Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nature Genet. 17:154-163, 1997. [PubMed: 9326934]
    Inoue K, Lupski J R.: Molecular mechanisms for genomic disorders. Ann. Rev. Genomics and Hum. Genet. 3:199-242, 2002. [PubMed: 12142364]
    Inoue and Lupski (2002) defined the term genomic disorders as ''diseases that result from genomic rearrangements, mostly mediated by nonallelic homologous recombination (NAHR)''. They further explain that NAHR between low-copy repeats (LCRs) that flank unique genomic segments results in changes of genome organization and can cause a loss or gain of genomic segments.

    Potocki L, Bi W, Treadwell-Deering D, Carvalho C M B, Eifert A, Friedman E M, Glaze D, Krull K, Lee J A, Lewis R A, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko S A, Zackai E H, Stankiewicz P, Lupski J R.: Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. AJHG 80: 633-649, 2007. [PMC free article: PMC1852712] [PubMed: 17357070]
    Shaw C J, Lupski J R.: Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms. Hum. Genet. 116:1-7, 2005. [PubMed: 15526218]
    Zori R T, Lupski J R, Heju Z, Greenberg F, Killian J M, Gray B A, Driscoll D J, Patel P I, Zackowski J L: Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. AJMG 47:504-511, 1993. [PubMed: 8256814]
    Patient 118-484 and 118-485.
    46,XX,der del(17)(p11.2p12)mat.,Mother:mos46,XX/46,XX,del(17)(p11.2p12)(11/20 cells).
    The patient was 8 months old and her mother appeared to be of normal intelligence but with minimal features of the Smith-Magenis syndrome.
    An interesting case of familial Smith-Magenis syndrome.
    Aberration: Interstitial deletion
    MIM#: 182290
    Chromosomal Aneuploidy: 17p-
    Index Terms: Smith-Magenis syndrome
    Negative band
  • De Leersnyder H, de Blois M-C, Vekemans M, Sidi D, Villain E, Kindermans C, Munnich A.: Beta1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome. J. Med. Genet. 38:586-590, 2001. [PMC free article: PMC1734944] [PubMed: 11546826]
    Nine children (five boys, four girls, aged 4-17 years) were studied.
    46,XX or XY,del(17)(p11.2).ish (D17S258-).
    The results ''suggest that beta1-adrenergic antagonists help to manage hyperactivity, enhance cognitive performance, and reduce sleep disorders in SMS''.
    Aberration: Interstitial deletion
    MIM#: 182290
    Chromosomal Aneuploidy: 17p-
    Index Terms: Smith-Magenis syndrome
    No band
  • de Rijk-van Andel J F, Catsman-Berrevoets C E, van Hemel J O, Hamers A J H: Clinical and chromosome studies of three patients with Smith-Magenis syndrome. Develop. Med. Child Neurol. 33:343-355, 1991. [PubMed: 2044854]
    Patient 1:
    46,XY,del(17)(p11.2).
    Patient was 3 years old. He walked without support, was hyperactive, and was mentally retarded.
    Patient 2:
    46,XY,inv(17)(p11.1p13)de novo.
    Patient was 29 years old with brachycephaly and thick lips.
    Patient 3:
    46,XY,del(17)(p11.1p11.2).
    Aberration: ID,IP
    MIM#: 182290
    Chromosomal Aneuploidy: 17p-
    Index Terms: Brachycephaly
    Negative band
  • Dykens E M, Smith A C M.: Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome. J. Intellect. Dis. Res. 42:481-489, 1998. [PubMed: 10030444]
    Smith A C M, Dykens E, Greenberg F.: Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2). AJMG (Neuropsychiat. Genet.) 81:179-185, 1998. [PubMed: 9613859]
    Smith A C M, Dykens E, Greenberg F.: Sleep disturbance in Smith-Magenis syndrome (del 17p11.2). AJMG 81:186-191, 1998. [PubMed: 9613860]
    Smith A C M, McGavran L, Robinson J, Waldstein G, MacFarlane J P, Zonana J, Reiss J, Lahr M, Allen L, Magenis R E: Interstitial deletion of (17)(p11.2p11.2) in nine patients. AJMG 24:393-414, 1986. [PubMed: 2425619]
    Vlangos C N, Wilson M, Blancato J, Smith A C M, Elsea S H.: Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene. AJMG DOI=10.1002/ajmg.a.30461; 132A:278-282, 2004 and 2005. [PubMed: 15690371]
    In the 1998 paper, 39 individuals were included from age 1.6 to 32 years.
    Sleep problems included difficulties falling asleep, shortened sleep cycles, snoring, bed-wetting, excessive daytime sleepiness, and daytime napping.
    The 1986 paper reports data on nine patients ranging in age from 3 months to 65 years. Phenotype includes brachycephaly, midface hypoplasia, prognathism, hoarse voice, speech delay with or without hearing loss, psychomotor and growth retardation, and behavior problems.
    Patient 1: 46,XY,del(17)(p11.200p12.00).,Patients 2 through 9: 46,XX or XY,del(17)(p11.2p11.2).
    Aberration: Interstitial deletion
    MIM#: 182290
    Index Terms: Brachycephaly,Language deficit ... delayed,Midface hypoplasia,Smith-Magenis syndrome
    Negative band
  • Elsea S H, Mykytyn K, Ferrell K, Coulter K L, Das P, Dubiel W, Patel P I, Metherall J E.: Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome. AJMG 87:342-348, 1999. [PubMed: 10588842]
    Elsea S H, Purandare S M, Adell R A, Juyal R C, Davis J G, Finucane B, Magenis R E, Patel P I. : Definition of the critical interval for Smith-Magenis syndrome. Cytogenet. Cell Genet. 79:276-281, 1997. [PubMed: 9605871]
    An erratum in 81:67, 1998

    Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis R E, Smith A C M, Richter S F, Kondo I, Dobyns W B, Patel P I, Lupski J R: Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). AJHG 49:1207-1218, 1991. [PMC free article: PMC1686451] [PubMed: 1746552]
    Trask B J, Mefford H, van den Engh G, Massa H F, Juyal R C, Potocki L, Finucane B, Abuelo D N, Witt D R, Magenis E, Baldini A, Greenberg F, Lupski J R, Patel P I.: Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. Hum. Genet. 98:710-718, 1996. [PubMed: 8931707]
    32 cases were studied.
    46,XX or XY,del(17)(p11.2).
    Further work on patients HOU142-540, HOU92-357, and HOU261-765 is reported.
    112 markers bound proximally by D17S29 and distally by cCI17-638 within the critical regionfor SMS alon 17p11.2 have been binned.
    Patient 93-360.
    46,t(2;17)(p25.3;p11.1).
    It is suggested that SMS is likely a contiguous-gene deletion syndrome which comprises characteristic clinical features, developmental delay, clinical signs of peripheral neuropathy, abnormal sleep function, and specific behavioral anomalies.
    Aberration: ID,RT
    MIM#: 182290
    Chromosomal Aneuploidy: 17p-
    Negative band
  • Finucane B M, Jaeger E R, Kurtz M B, Weinstein M, Scott C I, Jr: Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome. AJMG 45:443-446, 1993. [PubMed: 8465847]
    Finucane B M, Kurtz M B, Babu V R, Scott C I, Jr: Mosaicism for deletion 17p11.2 in a boy with the Smith-Magenis syndrome. AJMG 45:447-449, 1993. [PubMed: 8465848]
    Greenberg F, Lewis R A, Potocki L, Glaze D, Parke J, Killian J, Murphy M A, Williamson D, Brown F, Dutton R, McCluggage C, Friedman E, Sulek M, Lupski J R.: Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). AJMG 62:247-254, 1996. [PubMed: 8882782]
    29 patients were evaluated in the 1996 study and a protocol has been developed for evaluation and follow-ups.

    Juyal R C, Figuera L E, Hauge X, Elsea S H, Lupski J R, Greenberg F, Baldini A, Patel P I.: Molecular analysis of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. AJHG 58:998-1007, 1996. [PMC free article: PMC1914618] [PubMed: 8651284]
    These 62 patients include the 28 reported by Greenberg et al (1991); Zori et al (1993); and Juyal et al (1995a and 1995b).

    Juyal R C, Finucane B, Shaffer L G, Lupski J R, Greenberg F, Scott C I, Baldini A, Patel P I.: Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient. AJMG 59:406-407, 1995. [PubMed: 8599375]
    Also see the report by Juyal et al (1996).

    Juyal R C, Greenberg F, Mengden G A, Lupski J R, Trask B J, van den Engh G, Lindsay E A, Christy H, Chen K S, Baldini A, Shaffer L G, Patel P I.: Smith-Magenis syndrome deletion: A case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization. AJMG 58:286-291, 1995. [PubMed: 8533833]
    Juyal R C, Kuwano A, Kondo I, Zara F, Baldini A, Patel P I.: Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome. AJMG 66:193-196, 1996. [PubMed: 8958329]
    The patient HOU121-492 was found to be a mosaic for the del(17)(p11.2p11.2) by FISH.

    Llerena J C, Jr.: Regarding the Smith-Magenis syndrome multidisciplinary clinical study by Greenberg et al. [1996] AJMG 73:97, 1997. [PubMed: 9375933]
    Lorraine P, Shaw C, Stankiewicz P, Lupski J R.: Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet. in Med. 5:430-434, 2003. [PubMed: 14614393]
    The locus D17S258 was deleted in all 68 patients. Probes from this region can be used by FISH for diagnostic purposes.
    FISH clearly demonstrated the less than 2Mb deletion in all cells examined ruling out mosaicism.
    10 patients were studied.
    46,XX or XY,del(17)(p11.2p11.2).
    The most common abnormalities noted were strabismus, Brushfield spots, high myopia, and retinal detachments. It is suggested that the combination of high myopia, self-injurious head-banging, aggression, and hyperactivity among these patients makes them particularly susceptible to retinal detachments.
    Aberration: Interstitial deletion
    MIM#: 182290
    Chromosomal Aneuploidy: 17p-
    Index Terms: Brushfield spots,Retinal ... detachments,Strabismus,High myopia
    Negative band
  • Friedman J M, Harrod M J E, Howard-Peebles P N: Complementary duplication and deletion of 17 (pcen to p11.2): a family with a supernumerary chromosome comprised of an interstitially deleted segment. AJMG 44:37-40, 1992. [PubMed: 1519647]
    Mother.
    47,XX,del(17)(pter -> p11.2::cen -> qter),+del(17)(:p11.2 -> cen:).
    Sister.
    46,XX,del(17)(pter -> p11.2::cen -> qter)mat.
    Negative band
  • Gardner R J M, Docker H E, Fitzgerald P H, Parfitt R G, Romain D R, Scobie N, Shaw R L, Tumewu P, Watt A J: Mosaicism with a normal cell line and an autosomal structural rearrangement. J. Med. Genet. 31:108-114, 1994. [PMC free article: PMC1049669] [PubMed: 8182714]
    Case 8:
    mos46,XY/46,XY,del(17)(p11.2p11.2).
    Aberration: Interstitial deletion
    Index Terms: Mosaicism
    Negative band
  • Greco D, Romano C, Reitano S, Barone C, Benedetto D D, Castiglia L, Fichera M, Gales O, Zingale M, Buono S, Uliana V, Caselli R, Canitano R, hayek G, Renien A.: Three new patients with dup(17)(p11.2p11.2) without autism. Clin. Genet. 73: 294-296, 2008. [PubMed: 18218042]
    Aberration: Duplication
    Chromosomal Aneuploidy: 17p+
    Index Terms: Autis(m)(tic),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
  • Hamill M A, Roberts S H, Maguire M J, Laurence K M: Interstitial deletion of 17p11.2: Case report and review. Ann. Genet. 31:36-38, 1988. [PubMed: 3281568]
    Patient was 3 years old; and parental karyotypes were normal.
    46,XX,del(17)(p112).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 17p-
    Negative band
  • Hienonen T, Sammalkorpi H, Isohanni P, Veresteeg R, Karikoski R, Aaltonen L A.: A 17p11.2 germline deletion in a patient with Smith-Magenis syndrome and neuroblastoma. JMG 42:e3, 2005. [PMC free article: PMC1735919] [PubMed: 15635065]
    46,XX,del(17)(p11.2p11.2)(MDCR+,FLII-).
    A Finnish 2 year old was diagnosed with neuroblastoma but with extensive therapy was cured of the disease. She was subsequently diagnosed, at age 9, with psychomotor retardation/MCA syndrome, SMS.
    The deleted interval corresponds to a 4.2 Mb and lies between markers D17S1857 and D17S842.
    Aberration: Interstitial deletion
    MIM#: 182290
    Chromosomal Aneuploidy: 17p-
    Index Terms: SMS,Neuroblastoma
  • Holmberg B H, Holmgren G, Nelis E, Van Broeckhoven C, Westerberg B.: Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2. J. Med. Genet. 31:435-441, 1994. [PMC free article: PMC1049919] [PubMed: 8071969]
    In all of the 39 patients the duplication was seen.
    Aberration: Duplication
    MIM#: 118220
    Chromosomal Aneuploidy: 17p+
    Index Terms: Charcot-Marie-Tooth neuropathy type 1a
    Negative band
  • Inoue K, Lupski J R.: Molecular mechanisms for genomic disorders. Ann. Rev. Genomics and Hum. Genet. 3:199-242, 2002. [PubMed: 12142364]
    Inoue and Lupski (2002) defined the term genomic disorders as ''diseases that result from genomic rearrangements, mostly mediated by nonallelic homologous recombination (NAHR)''. They further explain that NAHR between low-copy repeats (LCRs) that flank unique genomic segments results in changes of genome organization and can cause a loss or gain of genomic segments.

    Pentao L, Wise C A, Chinault A C, Patel P I, Lupski J R: Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5Mb monomer unit. Nature Genet. 2:292-300, 1992. [PubMed: 1303282]
    Shaffer L G, Kennedy G M, Spikes A S, Lupski J R.: Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. AJMG 69:325-331, 1997. [PubMed: 9096765]
    Shaw C J, Bi W, Lupski J R.: Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. AJHG DOI=0002-9297/2002/7105; 71:1072-1081, 2002. [PMC free article: PMC420000] [PubMed: 12375235]
    Stankiewicz P, Shaw C J, Dapper J D, Wakui K, Shaffer L G, Withers M, Elizondo L, Park S-S, Lupski J R.: Genome architecture catalyzes nonrecurrent chromosomal rearrangements. AJHG DOI=0002-9297/2003/7205-0005; 72:1101-1116, 2003. [PMC free article: PMC1180264] [PubMed: 12649807]
    It is proposed that the de novo CMT1A duplication arises from unequal crossing over due to misalignment at these CMT1A repeat sequences during meiosis. It was found that the CMT1A duplication is a tandem repeat of 1.5 Mb of DNA.
    Aberration: Duplication
    Chromosomal Aneuploidy: 17p+
    Index Terms: Charcot-Marie-Tooth neuropathy type 1a(CMT1A),Smith-Magenis syndrome(SMS)
  • Kimura T, Arakawa Y, Inoue S, Fukushima Y, Kondo I, Koyama K, Hosoi T, Orimo A, Muramatsu M, Nakamura Y, Abe T, Inazawa J.: The brain finger protein gene (ZNF179), a member of the RING finger family, maps within the Smith-Magenis syndrome region at 17p11.2. AJMG 69:320-324, 1997. [PubMed: 9096764]
    Kondo I, Matsuura S, Kuwajima K, Tokashiki M, Izumikawa Y, Naritomi K, Niikawa N, Kajii T: Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del(17)(p11.2p11.2). AJMG 41:225-229, 1991. [PubMed: 1785639]
    Patients 1(K.S.), 2(H.N.), 3(T.F.), and 4(Y.T.).
    46,XX or XY,del(17)(p11.2p11.2)de novo.
    All four have hand anomalies which served useful purpose in the diagnosis.
    Six patients were studied.
    ZNF179 was deleted and was localized proximally to LLGL.
    Aberration: Interstitial deletion
    MIM#: 182290
    Chromosomal Aneuploidy: 17p-
    Index Terms: Hand ... anomalies
    Negative band
  • King P H, Waldrop R, Lupski J R, Shaffer L G.: Charcot-Marie-Tooth phenotype produced by a duplicated PMP 22 gene as part of a 17p trisomy-translocation to the X chromosome. Clin. Genet. 54:413-416, 1998. [PubMed: 9842994]
    Proband=46,X,der(X)t(X;17)(p22.1;p11.2)de novo.,Father=46,XY,t(4;16)(p16.2;q22.3).
    The patient was 37 years old and evaluated for possible ulnar neuropathy. Three copies of the PMP22 gene were found by FISH studies. CMT1A was confirmed by clinical and electrophysiological findings.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 17p+;Xp-
    Index Terms: PMP 22,Charcot-Marie-Tooth phenotype
  • Knoll J H M, Rogan P K.: Sequence-based, in situ detection of chromosomal abnormalities at high resolution. AJMG 121A:245-257, 2003. [PubMed: 12923866]
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 17p-
    Index Terms: scFISH,SMS
  • Kozma C, Meck J M, Loomis K J, Galindo H C: De novo duplication of 17p \dup(17)(p12 to p11.2)\: report of an additional case with confirmation of the cytogenetic, phenotypic, and developmental aspects. AJMG 41:446-450, 1991. [PubMed: 1776635]
    46,XY,dir dup(17)(pter -> p11.2::p12 -> p11.2::p11.2 -> qter).
    The condition appears to have characteristic pattern which includes prenatal and postnatal growth retardation, facial changes, club feet, and mild developmental deficits. The prominent facial changes are a relatively triangular face, downslanted palpebral fissures, malocclusion, and abnormal ears.
    Aberration: Direct duplication
    Chromosomal Aneuploidy: 17p+
    Negative band
  • Kulharya A S, Garcia-Heras J, Radtke H B, Norris K S, Keppen L D, Flannery D B.: Prenatal diagnosis of a trisomy 17p derived from a de novo non-mosaic satellited marker. Clin. Genet. 54:421-425, 1998. [PubMed: 9842996]
    47,XYqs+,+mar.ish der(17)(pter->cen)de novo
    The infant, with MCA, died at 7 months of age. Ultrasound examination showed fetal anomalies.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 17p+
  • Langer S, Fauth C, Rocchi M, Murken J, Speicher M R.: AcroM fluorescent in situ hybridization analyses of marker chromosomes. Hum. Genet. 109:152-158, 2001. [PubMed: 11511920]
    Chromosomal Aneuploidy: 17p and q+
    Index Terms: SMC,AcroM
  • LeGuern E, Gouider R, Mabin D, Tardieu S, Birouk N, Parent P, Bouche P, Brice A.: Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease. Ann. Neurol. 41:104-108, 1997. [PubMed: 9005872]
    The severity of the disease is not determined solely by the number of copies of the PMP22 gene.
    Aberration: Duplication
    MIM#: 118220
    Chromosomal Aneuploidy: 17p+
    Index Terms: Charcot-Marie-Tooth neuropathy type 1a
    Negative band
  • Liehr T, Rautenstrauss B, Grehl H, Bathke K D, Ekici A, Rauch A, Rott H D.: Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion. Hum. Genet. 98:22-28, 1996. [PubMed: 8682501]
    The patient was a 29 year old female with CMT.
    Mosaicism for the duplicated segment was demonstrated in different tissues: buccal mucosa, hair-root cells or paraffin-embedded nervous tissue, with FISH, Southern blot with the D17S122-specific probe pVAW409R1.
    Aberration: Duplication
    MIM#: 118220
    Chromosomal Aneuploidy: 17p+
    Index Terms: CMT disease type1A,Somatic reversion
    Negative band
  • Lockwood D H, Hecht F, Dowman C, Hecht B K, Rizkallah T H, Goodwin T M, Allanson J E: Chromosome subband 17p11.2 deletion: a minute deletion syndrome. J. Med. Genet. 25:732-737, 1988. [PMC free article: PMC1051575] [PubMed: 3236351]
    46,XX or XY,del(17)(p11.2p11.2).
    The three unrelated patients showed moderate to severe mental retardation, microbrachycephaly, prominent forehead, broad face, flat midface, prognathism, short, broad hands, and behavioural anomalies such as self-mutilation.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 17p-
    Negative band
  • MacMillan J C, Upadhyaya M, Harper P S: Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families. J. Med. Genet. 29:12-13, 1992. [PMC free article: PMC1015813] [PubMed: 1552536]
    Roberts S, Upadhyaya M, Farnham J, MacMillan J, Clarke A, Heath J P, Hodges I, Harper P S: Charcot-Marie-Tooth disease type 1 (CMT1) in a boy with the cytogenetic duplication 17p11.1-17p12. AJHG 51:A225, 1992.
    46,XY,dup(17)(p11.2p12)de novo.
    11 families were studied.
    DNA probe pVAW409R3 was used to recognise locus D17S122.
    Aberration: RE,DU
    MIM#: 118220
    Chromosomal Aneuploidy: 17p+
    Index Terms: Charcot-Marie-Tooth neuropathy type 1a
    Negative band
  • Magenis R E, Brown M G, Allen L, Reiss J: De novo partial duplication of 17p\dup(17)(p12 to p11.2)\: clinical report. AJMG 24:415-420, 1986. [PubMed: 2425620]
    Patient J. D. was 2 8/12 years old.
    46,XX, dup(17)(pter -> p11.2::p12 -> p11.2::p11.2 -> qter).
    Aberration: Duplication
    Negative band
  • Masuno M, Asano J I, Arai M, Kuwahara T, Orii T: Interstitial deletion of 17p11.2 with brain abnormalities. Clin. Genet. 41:278-280, 1992. [PubMed: 1606718]
    46,XX,del(17)(p11.2p11.2).
    Aberration: Interstitial deletion
    Index Terms: Brain anomalies
    Negative band
  • Meinecke P: Confirmation of a particular but nonspecific metacarpophalangeal pattern profile in patients with the Smith-Magenis syndrome due to interstitial deletion of 17p. AJMG 45:441-442, 1993. [PubMed: 8465846]
    46,XX,del(17)(p11.2p11.2).
    The 22 year old patient showed brachymesophalangy V and brachytelephalangy II-V.
    Aberration: Interstitial deletion
    MIM#: 182290
    Chromosomal Aneuploidy: 17p-
    Index Terms: Metacarpophalangeal,Brachymesophalangy,Brachytelephalangy
    Negative band
  • Moncla A, Livet M O, Auger M, Mattei J F, Mattei M G, Giraud F: Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases. J. Med. Genet. 28:627-632, 1991. [PMC free article: PMC1015796] [PubMed: 1956064]
    Moncla A, Piras L, Arbex O F, Muscatelli F, Mattei M G, Mattei J F, Fontes M: Physical mapping of microdeletions of the chromosome 17 short arm associated with Smith-Magenis syndrome. Hum. Genet. 90:657-660, 1993. [PubMed: 8444473]
    Case 1 (ES), Case 2 (MS), Case 3 (BN) all unrelated.
    del(17)(p11.2p11.2)de novo.
    Three patients are discussed.
    46,XX or XY,del(17)(p11.2).
    The patients had a similar phenotype with mental retardation, behavioral problems, facial dysmorphism, brachycephaly, a broad face with a flat midface, and short and broad hands.
    The Charcot-Marie-Tooth disease gene pU 10-41 and pYNM 67 probes were deleted in cases 2 and 3 but showed no neuromuscular anomaly.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 17p-
    Negative band
  • Myers S M, Challman T D.: Conegnital heart defects associated with Smith-Magenis syndrome: two cases of total anomalous pulmonary venous return. AJMG 131A:99-100, 2004. [PubMed: 15384100]
    Patient 1=46,XY,del(17)(p11.2p11.2).ish del(17)(p11.2)(SMS-).,Patient2=46,XX,?del(17)(p11.2p11.2).ish del(17)(p11.2p11.2)(SMS-,D17S379+))
    Patient 1 was 15 years old.,Patient 2 was 3 years old. She had several dysmorphic features and corrective surgical procedures were undertaken.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 17p-
    Index Terms: Smith-Magenis syndrome (SMS),Anomalous pulmonary venous return,RAI1
  • Nadal M, Valiente A, Dom+¿nech A, Pritchard M, Estivill X, Ramos-Arroyo M A.: Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;p11.2) interrupting the PMP22 gene. J. Med. Genet. 37:396-398, 2000. [PMC free article: PMC1734578] [PubMed: 10905899]
    Mother and son=46,XX or XY,der t(16;17)(q12;p11.2).
    Proband was 24 years old, with HNPP.
    Aberration: Reciprocal translocation
    Index Terms: PMP22,Hereditary neuropathy with liability to pressure palsies (HNPP)
    No band
  • Nakamine A, Ouchanov L, Jimenez P, Manghi E R, Esquivel M, Monge S, Fallas M, Burton B K, Szomju B, Elsea S H, Marshall C R, Scherer S W, McInnes L A.: Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay. AJMG (Part A): DOI=10.1002/ajmg.a.31636, 2007. [PubMed: 17334992]
    46,XY,dup(17)(p11.2p11.2)
    Aberration: Duplication
    Chromosomal Aneuploidy: 17p+
    Index Terms: Autis(m)(tic),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
  • Ohnishi A, Li L Y, Fukushima Y, Mori T, Mori M, Endo C, Yoshimura T, Sonobe M, Flandermeyer R, Lebo R V. : Asian hereditary neuropathy patients with peripheral myelin protein-22 gene aneuploidy. AJMG 59:51-58, 1995. [PubMed: 8849012]
    Aberration: Duplication
    Chromosomal Aneuploidy: 17p+
    Index Terms: Asian Hereditary neuropathy, Peripheral myelin protein-22
    Negative band
  • Park J P, Moeschler J B, Davies W S, Patel P I, Mohandas T K.: Smith-Magenis syndrome resulting from a de novo direct insertion of proximal 17q into 17p11.2. AJMG 77:23-27, 1998. [PubMed: 9557889]
    Patient C.M.:
    46,XY,[ins(17)(p11.2q11.2q21.3)].ish del(17)(c130G3-,D17S258-,FLI-,D17S29-)
    He was referred at 11 years of age for problems related to increasing behavioral diificulties and autism.
    Aberration: Direct insertion between two chromosomes
    MIM#: 182290
    Chromosomal Aneuploidy: 17p-
    Index Terms: Smith-Magenis syndrome
  • Popp D W, Johnson C P, Stratton R F: An additional case of deletion 17p11.2. AJMG 26:493-495, 1987. [PubMed: 3812598]
    Patient was 4 1/2 years old.
    46,XY,del(17)(p11.2).
    Aberration: Interstitial deletion
    Negative band
  • Potocki L, Chen K-S, Koeuth T, Killian J, Iannaccone S T, Shapira S K, Kashork C D, Spikes A S, Shaffer L G, Lupski J R.: DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome. AJHG 64:471-478, 1999. [PMC free article: PMC1377756] [PubMed: 9973284]
    Patient 1006 in family HOU 365:
    46,XX,dup(17)(p11.2p11.2).nuc ish dup(17)(p11.2p11.2)(FLIx3),,del(17)(p12p12)(PMP22x1).,Some other members of the family also showed the deletion for PMP22.
    The 1994 studies showed a duplication of the p11.2 region and reevaluation was done because of the worsening phenotype.
    Aberration: Duplication
    MIM#: 601097
    Chromosomal Aneuploidy: 17p+
    Index Terms: Carpal Tunnel syndrome,Peripheral myelin protein 22 (PMP22)
  • Raeymaekers P, Timmerman V, Nelis E, Van Hul W, De Jonghe P, Martin J J, Van Broeckhoven C, The HMSN Collaborative Research Group: Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). J. Med. Genet. 29:5-11, 1992. [PMC free article: PMC1015812] [PubMed: 1552545]
    Aberration: Duplication
    MIM#: 118220
    Chromosomal Aneuploidy: 17p+
    Index Terms: Charcot-Marie-Tooth neuropathy type 1a
    Negative band
  • Ravise N, Dubourg O, Tardieu S, Aurias F, Mercadiel M, Coullin P, Ruberg M, Catala M, Lesourd S, Brice A, LeGuern E.: Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a propsective study of 130 patients with inherited peripheral neuropathies. AJMG DOI=10.1002/ajmg.a.10190;118A:43-48, 2003. [PubMed: 12605439]
    Aberration: ID,DU
    Chromosomal Aneuploidy: 17p-;17p+
  • Reddy K S, Larsen M B: A molecular cytogenetic and clinical evaluation of mosaic tandem duplication 17p and Charcot-Marie-Tooth type 1A neuropathy. J. Med. Genet. 35:169-172, 1998. [PMC free article: PMC1051227] [PubMed: 9507402]
    mos46,XX,der(17)?del(17)(p12)dup(17)(p11.2p12).ish dup(17)(p11.2p13.3)(D17S379x2, p53x2, D17S122x2, D17S29+).
    The patient was 8 years old with psychomotor retardation.
    Issues with regard to counseling and management are discussed.
    Aberration: Duplication
    MIM#: 118220
    Chromosomal Aneuploidy: 17p+
    Index Terms: Charcot-Marie-Tooth neuropathy type 1a,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
  • Schneider M C, Hughes C R, Forrester S, Kimonis V.: Mild phenotype due to tandem duplication of 17p11.2. AJMG 94:296-299, 2000. [PubMed: 11038442]
    46,XX,dup(17)(p11.2p11.2)de novo
    The 2 year old had seizures and minor facial anomalies.
    Aberration: Duplication
    No band
  • Shaw C J, Stankiewicz P, Bien-Willner G, Bello S C, Shaw C A, Carrera M, Perez Jurado L, Estivill X, Lupski J R.: Small marker chromosomes in two patients with segmental aneusomy for proximal 17p. Hum. Genet. DOI=10.1007/s00439-004-1119-5; 115:1-7, 2004. [PubMed: 15098121]
    Patient 1934:
    Amnio=47,XX,+mar.,47,XX,+mar[72]/46,XX[28].ish der(17)(RP11-344E13+,RP11-98L14+,RP11-28B23+,RP11-78F10+,RP11-189D22+,RP11-258F1+,RP11-384M20+,RP11-22N12-,RP11-20B24-,D17Z1+).
    The patient was 9 years old. Amniocentesis done because of advanced maternal age (39) revealed the extra marker chromosome. Several dysmorphic features, and slow developmentally.
    Patient 2170:
    47,XY,+mar.ish der(17)(RP11-98L14+,RP5-836L9+,RP11-22N12-,D17Z1+).
    The patient was 5 years old with a diagnosis of cognitive impairment of mild degree.
    Chromosomal Aneuploidy: 17p+
    Index Terms: Segmental aneusomy
  • Slater H R, Bailey D K, Ren H, Cao M, Bell K, Nasioulas S, Henke R, Choo K H A, Kennedy G C.: High-resolution identification of chromosomal abnormalities using oligonucelotide arrays containing 116,204 SNPs. AJHG DOI=0002-9297/2005/7705-0004; 77:709-726, 2005. [PMC free article: PMC1271402] [PubMed: 16252233]
    Patient A2=del(17)(p11.2).,Patient B1=dup(17)(p11.2).
    Patient A2''s abnormality associated with hereditary neuropathy with pressure palsies (HNPP) and that of B1 with CMT1A.
    Use of this technique with 100K arrays has a distinct advantage.
    Aberration: Duplication
    MIM#: 162500
    Chromosomal Aneuploidy: 17p+
    Index Terms: Charcot-Marie tooth disease, type 1A (CMT1A).
  • Smith J L, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 1773.
    46,XX,inv(17)(p11.2p13.3)pat.
    Aberration: Inversion paracentric
    Negative band
  • Sorour E, Thompson P, MacMillan J, Upadhyaya M.: Inheritance of CMT1A duplication from a mosaic father. J. Med. Genet. 32:483-485, 1995. [PMC free article: PMC1050491] [PubMed: 7666403]
    DNA markers VAW409R3A (D17S122) and p132G8RI (PMP-22) and YAC clone 49H7 were used.
    Aberration: Duplication
    MIM#: 118220
    Chromosomal Aneuploidy: 17p+
    Index Terms: CMT1A
    Negative band
  • Spadotto Balarin M A, da Silva Lopes V L, Varella-garcia M.: A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome. AJMG 82:183-186, 1999. [PubMed: 9934986]
    The propositus was a 19 month old with mild MR and hematuria.
    46,XY,ish dup(17)(p11.2p11.2)(D17S29++,D17S379+)
    Aberration: Duplication
    MIM#: 104200
    Chromosomal Aneuploidy: 17p+
    Index Terms: Alport syndrome & dup(17)(p11.2)
  • Stratton R F, Dobyns W B, Greenberg F, DeSana J B, Moore C M, Fidone G S, Runge G H, Feldman P, Sekhon G S, Pauli R M, Ledbetter D H: Interstitial deletion of (17)(p11.2p11.2): Report of six additional patients with a new chromosome deletion syndrome. AJMG 24:421-432, 1986. [PubMed: 3728561]
    Six patients were studied. Deletion of 17p112 can cause 1) brachycephaly with a broad face and nasal bridge, 2) flat midface, 3) short, broad hands, and 4) mental retardation associated with hyperactivity and often self-destructive behavior; also reminiscent of craniosynostosis.
    46,XX or XY,del(17)(p11.2p11.2).
    Aberration: Interstitial deletion
    MIM#: 182290
    Index Terms: Brachycephaly,Face ... broad, round flat,Hand ... short
    Negative band
  • Sweeney E, Peart I, Tofeig M, Kerr B.: Smith-Magenis syndrome and tetralogy of Fallot. J. Med. Genet. 36:501-502, 1999. [PMC free article: PMC1734392] [PubMed: 10874646]
    Two patients are presented. Patient 1, a male and 2, a female.
    46,XX or XY,del(17)(p11.2)de novo.ish(D17S258-)
    The diagnosis was made before the phenotype evolved.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 17p-
    Index Terms: Smith-Magenis syndrome,Tetralogy of Fallot
  • Tyson J, Malcolm S, Thomas P K, Harding A E.: Deletions of chromosome 17p11.2 in multifocal neuropathies. Ann. Neurol. 39:180-186, 1996. [PubMed: 8967749]
    Aberration: Interstitial deletion
    MIM#: 162500
    Chromosomal Aneuploidy: 17p-
    Index Terms: Hereditary neuropathy with liability to pressure palsies (HNPP)
    Negative band
  • Upadhyaya M, Roberts S H, Farnham J, MacMillan J C, Clarke A, Heath J P, Hodges I C G, Harper P S: Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2 to 12. Hum. Genet. 91:392-394, 1993. [PubMed: 8500795]
    46,XY,dup(17)(p11.1 -> p12)de novo.
    Patient was 2 years old. He was evaluated because of developmental retardation, inability to walk until 16 months, and significant speech delay.
    Aberration: Direct duplication
    Chromosomal Aneuploidy: 17p+
    Index Terms: Charcot-Marie-Tooth neuropathy type 1a
    Negative band
  • Vostanis P, Harrington R, Prendergast M, Farndon P.: Case reports of autism with interstitial deletion of chromosome 17 (p11.2p11.2) and monosomy of chromosome 5 (5pter->5p15.3). Psychiat. Genet. 4:109-111, 1994. [PubMed: 8055249]
    Case report 1:
    The patient was born in 1980. The patient fulfilled DSM-III-R criteria for autistic disorder ie childhood autism.
    Aberration: Interstitial deletion
    MIM#: 182290
    Chromosomal Aneuploidy: 17p-
    Index Terms: Autis(m)(tic),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
  • Voullaire L E, Webb G C, Leversha M: Fragile X testing in a diagnostic cytogenetics laboratory. J. Med. Genet. 26:439-442, 1989. [PMC free article: PMC1015647] [PubMed: 2473208]
    46,XX and XY,del(17)(p11.2p11.2)de novo.
    Aberration: Interstitial deletion
    Negative band
  • Yamamoto T, Ueda H, Kawataki M, Yamanaka M, Asou T, Kondoh Y, Harada N, Matsumoto N, Kurosawa K.: A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies. AJMG 140A:88-91, 2006. [PubMed: 16333830]
    46,XX,del(17)(p11.2p13.1)de novo.ish del(17)(LIS1+,RP1-95H6+,RP11-54506+,RP11-457I18+,RP11-61B20+,RP11-89A15+,RP11-746E23-,RP11-125H11-,RP11-270I9-,RP11-385G5-,RP11-746E8-,RAI1-,RP1-172N16-,RP11-160E2-,RP11-363P3-,RP11-64J19-).
    The 6 month old had MCA, including dysmorphic face, tetralogy of Fallot. She died at age 7 months.
    The deleted chromosome was of paternal origin and the region involved the SMCR.
    Aberration: Interstitial deletion
    MIM#: 182290
    Chromosomal Aneuploidy: 17p-
    Index Terms: Smith-Magenis
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105549

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