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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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  • Kim H G, Herrick S R, Lemyre E, Kishikawa S, Salisz J A, Seminara S, MacDonald M E, Bruns G A P, Morton C C, Quade B J, Gusella J F.: Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1. J. Med. Genet. 42:666-672, 2005. [PMC free article: PMC1736121] [PubMed: 16061567]
    46,XY,t(7;8)(p12.3;p11.2)de novo
    The 24 year old patient was to found to have hypogonadotropic hypogonadism (infantile testes), azoospermia, and cleft lip and palate, without frank anosmia.
    The chromosome 7 breakpoint lies in intron 15 of TENS1.This translocation disrupts FGFR1 between exons 2 and 3 and predicts a novel fusion gene product-two putative reciprocal in-frame fusion transcripts TENS1/FGFR1 and FGFR1/TENS1.
    Aberration: Simple translocation
    MIM#: 136350
    Index Terms: Hypogonadotropic hypogonadism, FGFR1, Kallman syndrome,TENS1
  • Knight H M, Pickard B S, Maclean A, Malloy M P, Soares D C, McRae A F, Condie A, White A, Hawkins W, McGhee K, van Beck M, MacIntyre D J, Starr J M, Deary I J, Visscher P M, Porteous D J, Cannon R E, St Clair D, Muir W J, Blackwood D H R.: A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in Schizophrenia, bipolar disorder, and depression. AJHG 85: 833-846, 2009. [PMC free article: PMC2790560] [PubMed: 19944402]
    Aberration: PI,RT
    Index Terms: Schizophrenia,Bipolar disorder
  • Wagner K, Kroisel P M, Rosenkranz W: Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: hemizygosity for PGAM 2 and TCRG genes. Genomics 8:487-491, 1990. [PubMed: 1981052]
    MIM#: 175700
    Chromosomal Aneuploidy: 7p-
    Index Terms: Greig syndrome
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107012


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