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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- Lamont M A, Fitchett M, Dennis N R: Interstitial deletion of distal 13q associated with Hirschsprung''s disease. J. Med. Genet. 26:100-104, 1989. [PMC free article: PMC1015558] [PubMed: 2918536]Case 1:46,XX,del(13)(pter -> q22.1::q32.1 -> qter).Aganglionosis in the distal sigmoid colon was found.Case 2:46,XY,del(13)(pter -> q21.2::q32.3 -> qter).Case 3:46,XY,del(13)(pter -> q22.1::q32.1 -> qter).Multiple congenital anomalies but no bowel problems.Aberration: Interstitial deletionMIM#: 142623Chromosomal Aneuploidy: 13q-Index Terms: Hirschsprung diseaseNegative band
- Park J K, Lee J I, Jo H C, Shin J K, Choi W J, Lee S A, Lee J H, Paik W Y.: Molecular cytogenetic investigation of a balanced complex chromosomal rearrangement carrier ascertained through a neonate with partial trisomies of 13 and 22. AJMG Part A: DOI=10.1002/ajmg.a.31782, 2007. [PubMed: 17567881]Mother=46,XX,t(9;22;13)(9pter->9q21.3::13q21.1->13qter;22qter->22p10::9q21.3->9qter;13pter->13q21.1::22p10->22pter)dn.,Neonate=47,XX,+der(13)(13pter->13q21.1::22p10->22pter)mat.The neonate had MCA.Aberration: Complex translocationChromosomal Aneuploidy: 13q+;22q+
- Stalker H J, Gray B A, Zori R T.: Dominant transmission of a previously unidentified 13/17 translocation in a five-generation family with Robin cleft and other skeletal defects. AJMG 103:339-341, 2001. [PubMed: 11746016]46,XX,der(13)t(13;17)(q22.1;q23.3)mat.The translocation and skeletal defects segregated in this 5 generation family. Some years ago, a ''normal'' karyotype was reported.Aberration: Reciprocal translocationMIM#: 268305Chromosomal Aneuploidy: 13q-;17q+Index Terms: Robin cleft defect
- 13q221 - Chromosomal Variation in Man13q221 - Chromosomal Variation in Man
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