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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- Khan J Y, Moss C, Roper H P.: Aplasia cutis congenita with chromosome 12q abnormality. Arch. Dis. Childhood 72:F205-F206, 1995. [PMC free article: PMC2528456] [PubMed: 7796242]46,XY,-12,+der(12)t(1;12)(q42.13;q24.33)mat.The baby had extensive aplasia cutis congenita.Aberration: Simple translocationMIM#: 107600Chromosomal Aneuploidy: 1q+,12q-Index Terms: Aplasia cutis congenitaNegative band
- Youings S, Ellis K, Ennis S, Barber J, Jacobs P.: A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities. AJMG DOI=10.1002/ajmg.a.20553; 126A:46-60 , 2003 and 2004. [PubMed: 15039973]Lab ID DD9403018:46,XX,t(1;19)(q42.13;p13.2)mat.Case ascertained because of reproductive difficulties.Aberration: Reciprocal translocation
- 01q4213 - Chromosomal Variation in Man01q4213 - Chromosomal Variation in Man
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