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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-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Bottani A, Xie Y, Binkert F, Schinzel A.: A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus. Hum. Genet. 87:748-750, 1991. [PubMed: 1937482]
Brown S, Russo J, Chitayat D, Warburton D.: The 13q- syndrome: The molecular definition of a critical deletion region in band 13q32. AJHG 57:859-866, 1995. [PMC free article: PMC1801482] [PubMed: 7573047]The region is between D13S136 and D13S147 and is on the order of 1 Mb in size.del(13)(q32.3->q33.2)de novo paternal.Hirschsprung disease, mild MR, normal growth.Aberration: Interstitial deletionMIM#: 142623Chromosomal Aneuploidy: 13q-Index Terms: Hirschsprung diseaseNegative band - Lacro R V, Jones K L, Mascarello J T, Jones O W, Wilson N, Jones M C: Duplication of distal 15q: report of five new cases from two different translocation kindreds. AJMG 26:719-728, 1987. [PubMed: 3565485]Family 1:46,XX or XY,t(13;15)(q32.3;q22.1).&46,XX or XY,der(13)(13pter -> 13q32.3::15q22.1 -> 15qter)mat.Aberration: Simple translocationChromosomal Aneuploidy: 15q+Negative band
- Rivera H, Gonzalez-Flores S A, Rivas F, Sanchez-Corona J, Moller M, Cantu J M: Monosomy 13q32.3 to qter: report of two cases. J. Med. Genet. 22:142-145, 1985. [PMC free article: PMC1049402] [PubMed: 3989831]Case 2.46,XX,del(13)(q32.3).Aberration: Interstitial deletionNegative band
- Urioste M, Arroyo I, Villa A, Lorda-Sanchez I, Barrio R, Lopez-Cuesta M J, Rueda J.: Distal deletion of chromosome 13 in a child with the "Opitz" GBBB syndrome. AJMG 59:114-122, 1995. [PubMed: 8849002]46,XY,del(13)(q32.3->qter)de novo.The two anomalies may be coincidental or causative in this patient. Nine patients with 13q- are reviewed.Aberration: Terminal deletionMIM#: 145410Chromosomal Aneuploidy: 13q-Index Terms: Opitz GBBB syndromeNegative band
- 13q323 - Chromosomal Variation in Man13q323 - Chromosomal Variation in Man
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