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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-.

Cover of Chromosomal Variation in Man

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

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  • Same entry as in 02p230 (Uhrig et al, 1999).

  • Same entry as in 04p150 (Durak et al, 1999).

  • Same entry as in 08p230 (Johnson et al, 1997).

  • Same entry as in 08p230 (Shimokawa et al, 2004).

  • Al Husain M, Zaki O K.: A survey of 1,000 cases referred for cytogenetic study to King Khalid University hospital, Saudi Arabia. Hum. Hered. 49:208-214, 1999. [PubMed: 10436383]
    Case referred because of eight repeated abortions.
    Aberration: Inversion pericentric
  • Allen E F, Hodgkin W E: Trisomy for 8p21 to 8pter owing to a familial translocation. J. Med. Genet. 20:68-69, 1983. [PMC free article: PMC1048991] [PubMed: 6188830]
    46,XX,t(8;11)(p21;q25).&"46,XY,der(8)der(11)t(8;11)(p21;q25)mat."&"46,XX,-11,+der(11)t(8;11)(11pter -> 11q25::8p21 -> 8pter)pat."
    Patient was 10 months old and had physical anomalies and showed developmental delay.
    Aberration: Simple translocation
    Positive band
  • Same entry as in 02q322 (Aurias et al, 1978).

  • Barisic I, Zergollern L, Muzinic D, Hitrec V.: Risk estimates for balanced reciprocal translocation carriers - prenatal diagnosis experience. Clin. Genet. 49:145-151, 1996. [PubMed: 8737980]
    Family No. 26:
    Family ascertained because of spontaneous abortion.
    Aberration: Reciprocal translocation
    Index Terms: Risk estimates
    Positive band
  • Bernsen A H, Rasmussen K, Nielsen J: Trisomy 8 syndrome. Acta Paed. Scand. 66:397-402, 1977. [PubMed: 868518]
    Case B.S. (17 year old) in this report.
    47,XX,+del(8)(p12).&47,XX,+del(8)(qter -> p12:).&The characteristic features of this syndrome appear -> be mental retardation, deformities in the extremities, deformed and low set ears, abnormalities in the vertebral column with spina bifida occulta or butterfly vertebrae, restricted articular function in all types of joints and progressive flexion contractures.
    Aberration: Terminal deletion
    Index Terms: Ears ... accessory,Flexion ... contractures,Joints ... restricted,Spina bifida,Vertebra ... abnormalities,Vertebra ... butterfly
    Positive band
  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    t(8;12)(p12;p11); t(8;16)(p12;q12).
    Aberration: Reciprocal translocation
    Positive band
  • de Die-Smulders C E M, Engelen J J M, Schrander-Stumpel T R M, Govaerts L C P, de Vries B, Vles J S H, Wagemans A, Schijns-Fleuren S, Gillessen-Kaesbach G, Fryns J P.: Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature. AJMG 59:369-374, 1995. [PubMed: 8599364]
    The MCA/MR syndrome associated with this anomaly is further characterised.
    Patient 1:
    46,XX,inv dup(8)(p21.2p22)de novo.
    The patient was a prematurely born girl with MCA and at 15 months of age showed facial dysmorphic features.
    Aberration: II,DU
    Chromosomal Aneuploidy: 8p+
    Positive band
  • Dill F J, Schertzer M, Sandercock J, Tischler B, Wood S: Inverted tandem duplication generates a duplication deficiency of chromosome 8p. Clin. Genet. 32:109-113, 1987. [PubMed: 2888552]
    Patient G.S. was 27 years old. Dosage studies with probe D8S7 located in 8p23 to 8pter were done.
    46,XY,inv dup(8)(p12 -> p23.1).
    Aberration: Inverted insertions within a chromosome
    Chromosomal Aneuploidy: 8p+
    Positive band
  • Feldman G L, Weiss L, Phelan M C, Schroer R J, Van Dyke D L: Inverted duplication of 8p: Ten new patients and review of the literature. AJMG 47:482-486, 1993. [PubMed: 8256810]
    Mother of EM.
    Patient AH.
    46,XY,inv dup(8)(p23p11.2).
    Patient HVM.
    46,XX,inv dup(8)(p23.1p11.23).
    Patient JB.
    46,XX,inv dup(8)(p23.1p21.1).
    Patient SJ.
    46,XX,inv dup(8)(p23.1p12).
    Patients were hypotonic at birth and had feeding dificulties. There were many other dysmorphic features in most patients.
    Patients CB and EM.
    46,XX,inv dup(8)(p23p21).
    Patients MD and RS.
    46,XX,inv dup(8)(p23.1p11.2).
    Patients TC and PG.
    46,XX or XY,inv dup(8)(p23p12).
    Aberration: IP,RE
    Chromosomal Aneuploidy: 8p+
    Positive band
  • Same entry as in 07q340 (Fryns et al, 1982).

  • Same entry as in 07q360 (Fryns et al, 1984).

  • Guo W J, Callif-Daley F, Zapata M C, Miller M E.: Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization. AJMG 58:230-236, 1995. [PubMed: 8533823]
    Cases 1, 2, and 3:
    46,XX,inv dup (8)(p12p23 or p23.1).
    Patients age range from 2 to 19 months with various anomalies.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 8p+
    Index Terms: Telomer ... deletion
    Positive band
  • Same entry as in 06p110 (Hansen et al, 1983).

  • Henderson K G, Dill F J, Wood S: Characterization of an inversion duplication of the short arm of chromosome 8 by fluorescent in situ hybridization. AJMG 44:615-618, 1992. [PubMed: 1481820]
    46,XX,inv dup(8)(p12 -> p23.1)de novo.
    The patient had minor anomalies and severe mental retardation.
    Aberration: II,DU
    Chromosomal Aneuploidy: 8p+
    Positive band
  • Same entry as in 49,XXXXY (Hovav et al, 1993).

  • Jones L A, Dengler D R, Taysi K, Shackelford G D, Hartmann A F: Partial trisomy of the short arm of chromosome 8 resulting from balanced maternal translocation. J. Med. Genet. 17:232-234, 1980. [PMC free article: PMC1048555] [PubMed: 7401137]
    Patient, 3 months old with microcephaly, asymmetrical skull, hypertelorism, prominent nasal bridge, high arched palate, micrognathia, low set, malformed ears, growth retardation, skeletal abnormalities and congenital heart defects.
    46,XY,-15,+der(15)t(8;15)(p12;q25).&"46,XY,-15,+der(15)t(8;15)(15pter -> 15q25::8p12 -> 8pter)."
    Aberration: Simple translocation
    Index Terms: Congenital heart defects (cardiovascular anomalies),Ears ... low-set malformed,Hypertelorism,Microcephaly,Micrognathia,Palate ... high arched
    Positive band
  • Same entry as in 01p120 (Kleczkowska A et al, 1982).

  • Same entry as in 07q361 (Kleczkowska A et al, 1990).

  • Klopocki E, Fiebig B, Robinson P, Tonnies H, Erdogan F, Ropers H-H, Mundlos S.: A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2. AJMG DOI=10.1002/ajmg.a.31163; 140A:873-877, 2006. [PubMed: 16528753]
    Patient was 2 1/2 years old with psychomotor retardation and dysmorphic features.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 8p-
  • Loeffler J, Soelder E, Erdel M, Utermann B, Janecke A, Duba H-C, Utermann G.: Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism. AJMG DOI=10.1002/ajmg.10902; 116A:290-294, 2002. [PubMed: 12503109]
    The 16 year-old female was referred because of primary amenorrhoea. She had Muellerian aplasia, renal and skeletal anomalies, and minor dysmorphic signs.
    46,XX[6]/47,XX,+r(8).rev ish r(8)(p12q12)[14].
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 8p+;8q+
    Index Terms: Muellerian apalsia
  • Mann J, Wcislo K, 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. 777.
    Aberration: Reciprocal translocation
    Positive band
  • Mascarello J T, Hubbard V: Routine use of methods for improved G-band resolution in a population of patients with malformations and developmental delay. AJMG 38:37-42, 1991. [PubMed: 2012130]
    46,XX and XY, inv dup(8)(p12p23.1).
    Aberration: Duplication
    Chromosomal Aneuploidy: 8p+
    Index Terms: High resolution G-banding
    Positive band
  • Mitchell J J, Vekemans M, Luscombe S, Hayden M, Weber B, Richter A, Sparkes R, Kojis T, Watters G, Der Kaloustian V M: U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8. AJMG 49:384-387, 1994. [PubMed: 8160729]
    Patient E.P.
    46,XY,inv dup(8)(8qter->8p23.1::8p23.1->,8p12::8p23.1->8pter)de novo.
    The 8 year-old was mentally retarded with dysmorphic features.
    Confirmation of duplication was obtained by using markers: glutathione reductase, D85131, Defensin 1 gene probe, and cathepsin B.
    Aberration: IP,DU
    Chromosomal Aneuploidy: 8p+
    Index Terms: Cathepsin,Defensin 1,Glutathione reductase
    Positive band
  • Moog U, Engelen J J M, Albrechts J C M, Baars L G M, de Die-Smulders C E M.: Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications. AJMG 94:306-310, 2000. [PubMed: 11038444]
    46,XX,dup(8).rev ish dup(8)(p12).
    Aberration: Duplication
    Chromosomal Aneuploidy: 8p+
    No band
  • Ness G O, Lybaek H, Houge G.: Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities. AJMG DOI=10.1002/ajmg.10593; 113:125-136, 2002. [PubMed: 12407702]
    Case 7:47,XX,+mar[18]/46,XX[12].enh(8)(p11p12),cen8+.,47,XX,+der(8)del(8)(p12)del(8)(q10)[18]/46,XX[12].
    Patient, born in 1984, had short stature, MR, and was motorically clemsy.
    Chromosomal Aneuploidy: 8p+
    Index Terms: CGH
  • Same entry as in 05p1409 (Rethore et al, 1984).

  • Same entry as in 01p220 (Sachs et al, 1985).

  • Same entry as in 01q430 (Spikes et al, 1995).

  • Taylor K M, Francke U, Brown M G, George D L, Kaufhold M: Inverted tandem (''Mirror'') duplications in human chromosomes: inv dup 8p, 4q, 22q. AJMG 1:3-19, 1977. [PubMed: 610424]
    Patient 1 (PS030960) in this report.
    46,XX,inv dup (8)(pter -> p23::p12 -> p23::p23 -> qter).&Both parents had normal karyotypes. The 15 year old patient had prominent nose, short philtrum, hallux valgus and absence of deep creases on sole.
    Aberration: Duplication
    Index Terms: Philtrum ... short
    Positive band
  • Turleau C, Chavin-Colin F, de Grouchy J: Cytogenetic investigation in 413 couples with spontaneous abortions. Europ. J. Obst. Gynecol. Reprod. Biol. 9:65-74, 1979. [PubMed: 264085]
    Laboratory register No. 6618.
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band
  • Veltman J A, Schoenmakers E F P M, Eussen B H, Janssen I, Merkx G, van Cleef B, van Ravenswaaij C M, Brunner H G, Smeets D, van Kessel A G.: High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. AJHG 70:1269-1276, 2002. [PMC free article: PMC447601] [PubMed: 11951177]
    Case 18=46,XY,dup(8)(p23p12).
    Patient ascertained because of MCA.
    Loss of 8pter confirmed by FISH, and inversion duplication followed by deletion of distal part of 8pter.
    Aberration: TD,IP
    Chromosomal Aneuploidy: 8p-;8p+
  • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
    Aberration: Reciprocal translocation
    Positive band
  • Yenamandra A, Perrone R, McLaughlin J, Mehta L.: Inverted duplication/deletion of chromosome 8p: mild clinical phenotype. AJMG 82:91-93, 1999. [PubMed: 9916851]
    46,XX,inv dup del(8)(qter->p23.1::p23.1->p12:)de novo
    The 18 month old was evaluated because of mild motor delays and significant speech and language delays. There were several other dysmorphic features and agenesis of the corpus callosum.
    Aberration: TD,DU
    Chromosomal Aneuploidy: 8p+;8p-
  • Yu C E, Oshima J, Fu Y H, Wijsman E M, Hisama F, Alisch R, Matthews S, Nakura J, Miki T, Ouais S, Martin G M, Mulligan J, Schellenberg G D.: Positional cloning of the Werner''s syndrome gene. Science 272:258-262, 1996. [PubMed: 8602509]
    MIM#: 277700
    Index Terms: Werner syndrome gene
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106637
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