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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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16q221

16q22.1
  • Chen C-P, Lin S-P, Lin C-C, Li Y-C, Chern S-R, Chen W-M, Lee C-C, Hsieh L-J, Wang W.: Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1->qter) and partial monosomy 20q (20q13.3->qter). Prenat. Diag. DOI=10.1002/pd.1083;25:112-118, 2005. [PubMed: 15712324]
    46,XY.ish der(20)t(16;20)(q22.1;q13.3),(SKY+,16qTEL+,20qTEL-)de novo.
    The infant had MCA.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 16q+;20q-
  • Ferraro M, Scarton G, Ambrosini M: Cosegregation of hypertrophic cardiomyopathy and a fragile site on chromosome 16 in a large Italian family. J. Med. Genet. 27:363-366, 1990. [PMC free article: PMC1017132] [PubMed: 2359098]
    A three generation family with 24 members has been studied.
    46,XX and XY,fra(16)(q22.1).
    10 members of the family were found to have the chromosome variation and hypertrophic cardiomyopathy. Unaffected members did not show the trait.
    Aberration: Marker chromosome
    MIM#: 192600
    Negative band
  • Fujiwara M, Yoshimoto T, Morita Y, Kamada M: Interstitial deletion of chromosome 16q: 16q22 is critical for 16q- syndrome. AJMG 43:561-564, 1992. [PubMed: 1605249]
    46,XX,del(16)(q22.1q22.3)de novo.
    The patient died on the 159th day after birth. Diarrhea and postprandial vomiting after every feeding was common.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 16q-
    Index Terms: Diarrhea
    Negative band
  • Mulley J C, Hyland V J, Fratini A, Bates L J, Gedeon A K, Sutherland G R: A linkage group with FRA16B (the fragile site at 16q22.1). Hum. Genet. 82:131-133, 1989. [PubMed: 2722188]
    Aberration: Fragile sites
    Negative band
  • Natt E, Westphal E M, Toth-Fejel S E, Magenis R E, Buist N R M, Rettenmeiser R, Scherer G: Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1 to 16q22.3 in a patient with tyrosinemia type II. Hum. Genet. 77:352-358, 1987. [PubMed: 2891604]
    Patient TH was followed from age 2 to 21 years.
    del(16)(q221 -> q223).
    Aberration: Interstitial deletion
    MIM#: 276600
    Chromosomal Aneuploidy: 16q-
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105798

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