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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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  • Alvarado M, Bass H N, Caldwell S, Jamehdor M, Miller A A, Jacob P: Miller-Dieker syndrome. Detection of a cryptic chromosome translocation using in situ hybridization in a family with multiple affected offspring. Am. J. Dis. Child. 147:1291-1294, 1993. [PubMed: 8249946]
    Patient died at 4 years of age. Four subsequent pregnancies were either spontaneous abortions (2), or were terminated because of presence of abnormalities detected at ultrasound examinations. DNA probe (D17Z1) work led to the detection of the translocation.
    Aberration: Simple translocation
    MIM#: 247200
    Chromosomal Aneuploidy: 17p-
    Index Terms: Miller-Dieker syndrome,Translocation ... cryptic
    Negative band
  • Bruno D L, Anderlid B-M, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin C L, Douglas J, Nowak C, Adam M P, Kooy R F, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgtrom B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries B B A, Wallin A, Amor D J, James P A, Slater H R, Schoumans J.: Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J. Med. Genet. 47: 299-311, 2010. [PubMed: 20452996]
    Aberration: ID,DU
    Chromosomal Aneuploidy: 17p-; 17p+
  • Cardoso C, Leventer R, Ward H L, Toyo-oka K, Chung J, Gross A, Martin C L, Allanson J, Pilz D T, Olney A H, Mutchinick O M, Hirotsune S, Wynshaw-Boris A, Dobyns W B, Ledbetter D H.: Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. AJHG DOI=0002-9297/2003/7204; 72:918-930, 2003. [PMC free article: PMC1180354] [PubMed: 12621583]
    Dobyns W B, Curry C J R, Hoyme H E, Turlington L, Ledbetter D H: Clinical and molecular diagnosis of Miller-Dieker syndrome. AJHG 48:584-594, 1991. [PMC free article: PMC1682996] [PubMed: 1671808]
    Dobyns W B, Reiner O, Carrozzo R, Ledbetter D H: Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA 270:2838-2842, 1993. [PubMed: 7907669]
    Kuwano A, Ledbetter S A, Dobyns W B, Emanuel B S, Ledbetter D H: Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. AJHG 49:707-714, 1991. [PMC free article: PMC1683159] [PubMed: 1897521]
    Pilz D T, Matsumoto N, Minnerath S, Mills P, Gleeson J G, Allen K M, Walsh C A, Barkovich A J, Dobyns W B, Ledbetter D H, Ross M E. : Lis1 and XLIS(DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum. Mol. Genet. 7:2029-2037, 1998. [PubMed: 9817918]
    Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns W B, Caskey C T, Ledbetter D H: Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 364:717-721, 1993. [PubMed: 8355785]
    Wynshaw-Boris A.: Lissencephaly and LIS1: Insights into the molecular mechanisms of neural migration and development. Clin. Genet. 72: 296-304, 2007. [PubMed: 17850624]
    Pilz et al suggest that LIS1 and XLIS mutations cause the majority of human LIS.
    The cloning of the gene (LIS-1, lissencephaly-1) in 17p13.3 that is deleted in Miller-Dieker patients is reported. A probe for LIS1 gene is now available.
    Cardoso et al have mapped the deletion size in 19 children with ILS, 11 children with MDS, and 4 children with 17p13.3 deletions not involving LIS1. They show that the critical region that differentiates ILS from MDS can be reduced to 400 kb. They have identified 8 genes that are consistently deleted in MDS patients. Deletion of CRK and 14-3-3 epsilon genes delineates the most severe lissencephaly grade. These authors suggest that deletion of one or both of these genes in combination with deletion of LIS1 may contribute to the more severe form of lissencephaly seen only in patients with MDS.
    27 patients from 25 families were studied by clinical, cytogenetic and molecular points of view.
    It is concluded that 21 of the 25 patients show deletion of a critical region comprising two or more loci within band 17p13.3. It is thought that the remaining patients have smaller deletions in the critical region not detectable by the probes used.,"FISH studies showed two patients with cryptic translocations: t(3q;17p), and t(8q;17p). The two cosmid probes used were 41A and P13 from the MDS critical region 17p13.3."
    Aberration: ID,ST
    Chromosomal Aneuploidy: 17p-
    Index Terms: LIS1,XLIS(DCX),Lissencephaly (ILS),Cryptic translocations,Miller-Dieker syndrome (MDS)
    Negative band
  • Chabchoub E, de Ravel T, Thoelen R, Vermeesch J R, Fryns J-P, Van Esch H.: Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly. Clin. Genet. 70: 535-537, 2006. [PubMed: 17101002]
    46,XX.del(17)(BAC clone RP11-135N5-)dn, 1.4 Mb.
    Aberration: Interstitial deletion
    MIM#: 607432
    Chromosomal Aneuploidy: 17p-
    Index Terms: Lissencephaly
  • Chitayat D, Toi A, Babul R, Blaser S, Moola S, Yarkoni D, Sermer M, Johnson J A, Vasjar J, Teshima I.: Omphalocele in Miller-Dieker syndrome: expanding the phenotype. AJMG 69:293-298, 1997. [PubMed: 9096760]
    46,XY,ish del(17)(p13.3)(D17S379-)de novo
    The patient was found to have MDS (postnatally), mild cerebral ventriculomegaly and omphalocele (prenatally).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 17p-
    Index Terms: Omphalocele in MDS
  • De Rijk-van Andel J F, Catsman-Berrevoets C E, Halley D J J, Wesby-van Swaay E, Niermeijer M F, Oostra B A: Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13. Hum. Genet. 87:509-510, 1991. [PubMed: 1879837]
    Oostra B A, de Rijk-van Andel J F, Eussen H J, van Hemel J O, Halley D J J, Niermeijer M F: DNA analysis in patients with lissencephaly type I and other cortical dysplasias. AJMG 40:383-386, 1991. [PubMed: 1951447]
    A patient at age 6 months showed isolated lissencephaly sequence (with grade 3 lissencephaly).
    46,XX,del(17)(p13)(YNH37.3 and YNZ22.1)paternal origin.
    About two dozen patients were investigated.
    Patient 7:del(17)(p13.3).
    Aberration: TD,ID
    MIM#: 247200
    Chromosomal Aneuploidy: 17p-
    Index Terms: Lissencephaly
    Negative band
  • Dobyns W B, Gilbert E F, Opitz J M: Letter to the Editor: Further comments on the Lissencephaly syndromes. AJMG 22:197-211, 1985. [PubMed: 3901751]
    Dobyns W B, Stratton R F, Parke J T, Greenberg F, Nussbaum R L, Ledbetter D H: Miller-Dieker syndrome: Lissencephaly and monosomy 17. J. Ped. 102:552-558, 1983. [PubMed: 6834189]
    Pollin T I, Dobyns W B, Crowe C A, Ledbetter D H, Bailey-Wilson J E, Smith A C M.: Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3. AJMG 85:369-375, 1999. [PubMed: 10398263]
    Patient 1 was 4 months old. Parental karyotypes were normal.
    46,XY,r(17)(p13.3q253).,It is hypothesised that a small deletion of band 17p13.3 may be related to the occurrence of Miller-Dieker syndrome.
    Aberration: Ring chromosome
    MIM#: 247200
    Index Terms: Lissencephaly,Miller-Dieker syndrome
    Negative band
  • Endo A, Yesato T, minato M, Takada M, Takahashi S, Harada K.: Ring chromosome 17 syndrome with monosomy 17 mosaicism: case report and literature review. Acta Paediat. 88:1040-1043, 1999. [PubMed: 10519353]
    The 4 mo infant had multiple caf+¬-au-lait spots on his back and minor dysmorphic features..
    Aberration: Ring chromosome
    No band
  • Greenberg F, Stratton R F, Lockhart L H, Elder F F B, Dobyns W B, Ledbetter D H: Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17. AJMG 23:853-859, 1986. [PubMed: 3963054]
    Patient 1 died after 24 weeks, patient 2 was 4.5 months old.
    46,XY,inv(17)(p13.3q25.1).&46,XX,inv(17)(p13.3q25.1)pat.&46,XY,rec(17)(dup q),inv(17)(p13.3q25.1)mat.
    Aberration: Inversion pericentric
    MIM#: 247200
    Index Terms: Miller-Dieker syndrome
    Negative band
  • Honda A, Ono J, Kurahashi H, Mano T, Imai K, Okada S.: Isolated lissencephaly sequence with balanced chromosome translocation involving 17p13.3. Brain & Develop. 20:190-192, 1998. [PubMed: 9628198]
    46,XX,t(8;17)(p11.23;p13.3)de novo
    A 7mo old girl, with isolated lissencephaly sequence, developed infantile spasms and had severe developmental delay.
    The breakpoint was between D17S1566 and D17S379 and there was no apparent deletion by FISH.
    Aberration: Simple translocation
    MIM#: 247200
    Index Terms: Lissencephaly isolated
  • Joyce C A, Dennis N R, Howard F, Davis L M, Thomas N S.: An 11p;17p telomeric translocation in two families associated with recurrent miscarriages and Miller-Dieker syndrome. Europ. J. Hum. Genet. 10:707-714, 2002. [PubMed: 12404102]
    Family 1, MW=46,XX,t(11;17)(p15.5;p13.3).ish t(11;17)(2209a2-,D17S379+,D17S379-,2209a2+).,Family 2 LT=46,XX,ish t(11;17)(p15.5;p13.3)mat (2209a2-,2111b1+, 2111b1-, 2209a2+).
    MW died aged 1 day and LT died at 14 months of age.
    Aberration: RT,ID
    MIM#: 247200
    Chromosomal Aneuploidy: 17p-
    Index Terms: Miller-Dieker syndrome
  • King A, Upadhyaya M, Penney C, Doshi R.: A case of Miller-Dieker syndrome in a family with neurofibromatosis type 1. Acta Neuropathologica 99:425-427, 2000. [PubMed: 10787042]
    Online publication March 22, 2000
    The child, died at the age of 4 years, had frequent epileptic seizures as well as hypotonia.
    Examination of the brain confirmed lissencephaly with a thickened cortex, deficient white matter, and grey matter heteropias.
    The patient''s mother and maternal grandmother had NF1 but the child did not possess the mutation.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 17p-
    Index Terms: NF1,Miller-Dieker syndrome
  • Kingston H M, Ledbetter D H, Tomlin P I, Gaunt K L.: Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation. J. Med. Genet. 33:69-72, 1996. [PMC free article: PMC1051816] [PubMed: 8825053]
    46,XY,rec(17),dup q, inv(17)(p13.3q25.1)mat.,Mother:46,XX,der inv(17)(p13.3q25.1)mat.
    The proband with MDS died at the age of 2 years 7 months.
    Besides there was another female sib of the proband who was also a carrier.
    Aberration: Inversion pericentric
    MIM#: 247200
    Index Terms: Miller-Dieker syndrome
    Negative band
  • Kurahashi H, Sakamoto M, Ono J, Honda A, Okada S, Nakamura Y.: Molecular cloning of the chromosomal breakpoint in the LIS1 gene of a patient with isolated lissencephaly and balanced t(8:17). Hum. Genet. 103:189-192, 1998. [PubMed: 9760204]
    46,XX,t(8;17)(p11.2;p13.3)de novo
    The breakpoint was within the LIS1 gene.
    Aberration: Reciprocal translocation
    MIM#: 247200
    Index Terms: Lissencephaly
  • Ledbetter S A, Kuwano A, Dobyns W B, Ledbetter D H: Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. AJHG 50:182-189, 1992. [PMC free article: PMC1682541] [PubMed: 1346078]
    Mantel A, Leonard C, Husson B, Miladi N, Tardieu M, Landrieu P.: Submicroscopic deletions of 17p13.3 in type 1 lissencephaly. Hum. Genet. 94:95-96, 1994. [PubMed: 8034303]
    45 patients with gyral abnormalities ranging from complete agyria to mixed agyria/pachygyria and complete pachygyria were studied.
    A locus in 17p13 represents a major genetic etiology for patients with lissencephaly. It is suggested that in situ hybridization would be useful for diagnostic evaluation of MDS and ILS patients.
    Aberration: Interstitial deletion
    MIM#: 247200
    Chromosomal Aneuploidy: 17p-
    Index Terms: Isolated lissencephaly
    Negative band
  • Mackay J, Steel C M, Elder P A, Forrest A P M, Evans H J: Allele loss on short arm of chromosome 17 in breast cancers. Lancet ii:1384-1385, 1988. [PubMed: 2904522]
    Allele loss was found with probe YNZ22.
    Aberration: Interstitial deletion
    MIM#: 211410
    Index Terms: Breast ... cancer
    Negative band
  • Martin C L, Waggoner D J, Wong A, Uhrig S, Roseberry J A, Hedrick J F, Pack S D, Russell K, Zackai E, Dobyns W B, Ledbetter D H.: "Molecular rulers" for calibrating phenotypic effects of telomere imbalance. J. Med. Genet. 39:734-740, 2002. [PMC free article: PMC1734978] [PubMed: 12362030]
    Case 6, with a history of recurrent miscarriages. Case 7 with in utero fetal demise.
    Cases 6 and 7=46,XY,(17p)satellited.
    Aberration: RT,DU,MA
    Chromosomal Aneuploidy: 17p+
    Index Terms: Molecular rulers, Telomere imbalance
  • Pilz D T, Dalton A, Long A, Jaspan T, Maltby E L, Quarrell O W J. : Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism. J. Med. Genet. 32:275-278, 1995. [PMC free article: PMC1050374] [PubMed: 7643355]
    23 patients were studied.
    Aberration: Interstitial deletion
    MIM#: 247200
    Chromosomal Aneuploidy: 17p-
    Index Terms: Lissencephaly
    Negative band
  • Schwartz C E, Sauer S M, Brown A M, Divelbiss J E, Patil S R: Localization of the Miller-Dieker critical region is proximal to locus D17S34 (p144D6) in 17p13.3. Genomics 7:621-624, 1990. [PubMed: 2387588]
    The presence of polymorphism in the chromosome facilitated the work.
    Aberration: Marker chromosome
    MIM#: 247200
    Negative band
  • Shchelochkov O A, Cheung S W, Lupski J R.: Genomic and clinical characteristics of microduplications in chromosome 17. AJMG Part A: 152A: 1101-1110, 2010. [PubMed: 20425816]
    Sreenath Nagamani S C, Zhang F, Shchelochkov O A, Bi W, Ou Z, Scaglia F, Probst F J, Shinawi M, Eng C, Hunter J V, Sparagana S, Lagoe E, Fong C T, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault A C, Patel A, Bacino C A, Sahoo T, Kang S H, Cheung S W, Lupski J R, Stankiewicz P.: Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J. Med. Genet. 46: 825-833, 2009. [PubMed: 19584063]
    Three deletions were terminal and five interstitial.
    Aberration: ID,TD
    MIM#: 247200
    Chromosomal Aneuploidy: 17p-
    Index Terms: YWHAE, Miller-Dieker syndrome
  • Tentler D, Johannesson T, Johansson M, Rastam M, Gillberg C, Orsamrk C, Carlsson B, Wahlstrom J, Dahl N.: A candidate region for Asperger syndrome defined by two 17p breakpoints. Europ. J. Hum. Genet. 11:189-195, 2003. [PubMed: 12634868]
    Case 1=46,XY,t(13;17)(q14;p13)de novo.,Case 2=46,XY,t(17;19)(p13.3;cen)de novo.
    Case 1 was a 19 year old man.,Case 2 was 20 years old.
    The breakpoints were located in the region between clones 898_a_10 and 961_c_4 and flanked by the clones RP11-177H5 and RPCIP-119303.
    Aberration: Reciprocal translocation
    Index Terms: Asperger syndrome
  • Thomas M A, Duncan A M V, Bardin C, Der Kaloustian V M.: Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat. AJMG DOI=10.1002/ajmg.a.20373; 124A:292-295, 2003 and 2004. [PubMed: 14708103]
    Life support was withdrawn at 10 days of life.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 17p-;20p+
    Index Terms: Lissencephaly,LIS1
  • Van Zelderen-Bhola S L, Breslau-Siderius E J, Beverstock G C, Stolte-Dukstra I, De Vries L S, Stoutenbeek Ph, de Pater J M.: Prenatal and postnatal investigation of a case with Miller-Dieker syndrome due to a familial cryptic translocation t(17;20)(p13.3;13.3) detected by fluorescent in situ hybridization. Prenat. Diag. 17:173-179, 1997. [PubMed: 9061768]
    Proband:46,XY.ish der(17)t(17;20)(p13.3;q13.3)pat,[wcp20+,p17H8+,(c197-2,c197-4,c197-9)-].,Father:46,XY.ish dert(17;20)(p13.3q13.3)mat,(wcp20+,p17H8+,,(c197-2,197-4, c197-9)-;wcp17+,(c197-2,197-4,c197-9)+,ZnFP43+).
    At 29 weeks, the fetus, with a kidney anomaly, amenorrhea, and dilated occipital horns, was detected initially by ethoscopy. At 31 weeks, the proband was born with clinical symptoms of MDS.
    In addition an aunt was also a carrier of the translocation dert(17;20)mat.
    Aberration: Reciprocal translocation
    MIM#: 247200
    Chromosomal Aneuploidy: 17p-
    Index Terms: MDS
  • Walter S, Sandig K, Hinkel G K, Mitulla B, Ounap K, Sims G, Sitska M, Utermann B, Viertel P, Kalscheuer V, Bartsch O.: Subtelomeric FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33. AJMG DOI=10.1002/ajmg.a.30160; 128A:364-373, 2004. [PubMed: 15264281]
    Patient # 5=46,XY,t(17;20)(p13.3q13.33)de novo
    Aberration: Reciprocal translocation
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107113


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