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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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  • Babu V R, Van Dyke D L, Flejter W L, Jackson C E: Chromosome 20 deletion in multiple endocrine neoplasia type 2: expanded double-blind studies. AJMG 27:739-748, 1987. [PubMed: 2888311]
    Babu V R, Van Dyke D L, Jackson C E: Chromosome 20 deletion in human multiple endocrine neoplasia types 2A and 2B: a double-blind study. PNAS 81:2525-2528, 1984. [PMC free article: PMC345095] [PubMed: 6585814]
    Interstitial deletion of band 20p122 was found.
    Aberration: Interstitial deletion
    MIM#: 171400
    Index Terms: Pes, valgus
    Negative band
  • Fryns J P, Kleczkowska A, Decock P, Massa G, Van den Berghe H: 46,XX/46,XX,del(20)(pter to p12.2) mosaicism limited to fibroblasts associated with MCA/MR and severe growth deficit. Ann. Genet. 35:234-236, 1992. [PubMed: 1296522]
    Patient K.L. was 8 years old.
    Patient had normal blood chromosomes. No obligatory signs of Alagille-Watson syndrome were present except the dysmorphic features.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 20p-
    Negative band
  • Garcia-Cruz D, Rivera H, Barajas L O, Jimenez-Sainz M, Nazara Z, Sanchez-Corona J, Duron-Huerta H, Garcia-Ochoa C, Cantu J M: Monosomy 20p due to a de novo del(20)(p12.2). Clinical and radiological delineation of the syndrome. Ann. Genet. 28:231-234, 1985. [PubMed: 3879435]
    Patient was 16 years old; mother''s and sib''s karyotypes were normal.
    Aberration: Terminal deletion
    Negative band
  • Robert M L P, Lopez T, Crolla J, Huang S, Owen C, Burvill-Homes L, Stumper O, Turnpenny P D.: Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart. Clin. Dysmorphol. 16: 241-246, 2007. [PubMed: 17786115]
    The 5 year old had significant learning difficulties, delayed growth and Norwood heart procedures.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 20p-
    Index Terms: Alagille syndrome,Hypoplastic left heart.
  • Sauter S, von Beust G, Burfeind P, Weise A, Starke H, Liehr T, Zoll B.: Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter->p12.2)[10]. AJMG 120A:533-536, 2003. [PubMed: 12884434]
    The patient (F) was 3 7/12 year old boy suffering from motor developmental delay and MR.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 20p-
    Index Terms: Autis(tic)
  • Stankiewicz P, Rujner J, Loffler C, Kruger A, Nimmakayalu M, Pilacik B, Krajewska-Walasek M, Gutkowska A, Hansmann I, Giannakudis I.: Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene. AJMG 103:166-171, 2001. [PubMed: 11568926]
    46,XY,?inv(20).fib ish inv(20)(p12.2p13)(D20S181 sp con JAG1 sp, 6b6+, D20S181 sp con JAG1 sp).
    The patient was 4 years old. It appears that disruption of JAG1, loss of function mutations or deletion resulting in haploinsufficiency, causes the expression of AGS.
    Aberration: Inversion paracentric
    MIM#: 118450
    Index Terms: JAG1,Alagille syndrome
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106365


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