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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- DeScipio C, Schneider L, Young T L, Wasserman N, Yaeger D, Lu F, Wheeler P G, Williams M S, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley A E, Saraiva J, Schinzel A G L, Guichet A, Dobyns W E, Toutain A, Spinner N B, Krantz I D.: Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel syndrome. AJMG DOI=10.1002/ajmg.a.30573; 134A:3-11, 2005. [PubMed: 15704124]Case 001-1:46,XX.ish del(6)(6pTel-).,Family 2:46,XX/Y.ish del(6)(6pTel-),Family 3:Mother=46,XX,t(6;16)(p25.3;q23).,Three fetuses=46,der(6)t(6;16)(p25.3;q23)mat.Aberration: Reciprocal translocationMIM#: 220210Chromosomal Aneuploidy: 6p-Index Terms: Ritscher-Schinzel syndrome,Cranio-cerebello-cardiac (3C) syndrome
- 06p252 - Chromosomal Variation in Man06p252 - Chromosomal Variation in Man
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