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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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  • Edelhoff S, Grond-Ginsbach C, von Eggeling F, Korholz D, Gobel U, Senger G.: Complex chromosomal rearrangements associated with congenital erythrophagocytotic histiocytosis. Clin. Genet. 53:298-302, 1998. [PubMed: 9650769]
    46,XX,der(1)(1qter->1p36.11::1p36.31->1p36.21::5q11.2->5qter) and der(5)(5pter->5q11.2::1p36.21->1p36.11::1p36.31->1pter)mat.,Parental karyotypes were normal and the origin of the structural abnormality was determined.
    The patient was 15 months old with dysmorphic features and the blood disorder.
    Aberration: Complex translocation
    MIM#: 267700
    Index Terms: Erythrophagocytotic histiocytosis congenital
  • Kang S-HL, Scheffer A, Ou Z, Li J, Scaglia F, Belmont J, Lalani S R, Roeder E, Enciso V, Braddock S, Buchholz J, Vacha S, Chinault A C, Cheung S W, Bacino C A.: Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin. Genet. 72: 329-338, 2007. [PubMed: 17850629]
    Aberration: TD,ID
    Chromosomal Aneuploidy: 1p-
    Index Terms: Array-CGH
  • Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter N P.: Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J. Med. Genet. 41:241-248, 2004. [PMC free article: PMC1735726] [PubMed: 15060094]
    Case 2:
    46,XX,dup(1)(p36.11->12)de novo
    The 12 year old had microcephaly, severe learning disability, and mildly dysmorphic facial features.
    The duplication, spanning five clones, was confirmed by quantitative FISH analysis.
    Aberration: Duplication
    Chromosomal Aneuploidy: 1p+
    Index Terms: Array-CGH
  • Youings S, Ellis K, Ennis S, Barber J, Jacobs P.: A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities. AJMG DOI=10.1002/ajmg.a.20553; 126A:46-60 , 2003 and 2004. [PubMed: 15039973]
    Lab ID DD9205376:
    Ascertainement was listed as miscellaneous.
    Aberration: Reciprocal translocation
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106668


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