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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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  • Amesse L, Yen F F, Weisskopf B, Hertweck S p.: Vaginal uterine agenesis associated with amastia in a phenotypic female with a de novo 46,XX,t(8;13)(q22.1;q32.1) translocation. Clin. Genet. 55:493-495, 1999. [PubMed: 10450870]
    Patient TB was 16 years old:
    46,XX,t(8;13)(q22.1;q32.1)de novo[4]/,46,XX,t(1;12)(q23;q24.3),t(6;6)(q15;p25),t(8;13)(q22;q32)[1].
    MIM#: 277000
    Index Terms: Vaginal uterine agenesis,Mayer-Rokitansky-Kuster-Hauser syndrome
  • Brueton L A, Reeve A, Ellis R, Husband P, Thompson E M, Kingston H M: Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals. AJMG 43:612-618, 1992. [PubMed: 1605259]
    Patient 1:
    Patient was 26 months.
    Patient 2, mother of patient 1.
    46,XX,t(8;10)(q22.1;p12.3)de novo.
    Patient 3:
    46,XX,dir dup(8)(q13.3q22.1)de novo.
    Aberration: RT,DU
    MIM#: 119600
    Index Terms: Cleidocranial dysplasia
    Negative band
  • Devor E J, Magee H J.: Multiple childhood behavioral disorders (Tourette syndrome, multiple tics, ADD and OCD) presenting in a family with a balanced chromosome translocation t(1;8)(q21.1;q22.1). Psychiat. Genet. 9:149-151, 1999. [PubMed: 10551546]
    Matsumoto N, David D E, Johnson E W, Konecki D, Burmester J K, Ledbetter D H, Weber J L.: Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome. Europ. J. Hum. Genet. 8:875-883, 2000. [PubMed: 11093278]
    Father=46,XY,t(1;8)(q2.1;q22.1).,6/7 children are carriers of the translocation.
    Some of the carriers are phenotypically normal.
    Aberration: Reciprocal translocation
    Index Terms: Gilles de la Tourette syndrome,Attention Deficit disorder,Obsessive Compulsive disorder, Asburger's syndrome
  • Jain S, Yang P, Farrell S A.: A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype. Europ. J. Med. Genet. DOI=10.1016/j.ejmg.2009.12.006, 2010. [PubMed: 20074678]
    46,XY,arr del(8)(q22.1), 1.6 Mb
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 8q-
    Index Terms: Nablus mask-like facial syndrome
  • Johnson M C, Hing A, Wood M K, Watson M S.: Chromosome abnormalities in congenital heart disease. AJMG 70:292-298, 1997. [PubMed: 9188669]
    Case 15:
    Anomalies included TGV and VSD.
    Aberration: Reciprocal translocation
    Index Terms: Congenital heart disease
  • Pearson A D J, Reid M M, Davison E V, Bown N, Malcolm A J, Craft A W: Cytogenetic investigations of solid tumors of children. Arch. Dis. Childhood 63:1012-1015, 1988. [PMC free article: PMC1779124] [PubMed: 3178262]
    The patient developed neuroblastoma and had this constitutional chromosome constitution.
    Aberration: Reciprocal translocation
    Index Terms: Neuroblastoma
    Negative band
  • Shieh J T C, Aradhya S, Novelli A, Manning M A, Cherry A M, Brumblay J, Salpietro C D, Bernardini L, Dallapiccola B, Hoyme H E.: Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization. AJMG Part A 140A: 1267-1273, 2006. [PubMed: 16691576]
    Two patients were presented.
    Segment spanning probes RP11-100L22 and RP11-31K23 were deleted.
    Aberration: Interstitial deletion
    MIM#: 608156
    Chromosomal Aneuploidy: 8q-
    Index Terms: Nablus mask-like facial syndrome
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106791
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