- McPherson E W, Laneri G, Clemens M M, Kochmar S J, Surti U.: Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome. AJMG 71:430-433, 1997. [PubMed: 9286450]46,XY,t(1;7)(q21.3;q34)de novoThe infant with MCA was diagnosed as having the Coffin-Siris syndrome.Aberration: Reciprocal translocationMIM#: 135900Index Terms: Coffin-Siris syndromeNo 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 DD9501118:46,XX,t(1;16)(q21.3;q13)fam.Case ascertainment listed as miscellaneousAberration: Reciprocal translocation
Publication Details
Copyright
Copyright © 2011-2013, Digamber
Borgaonkar.
Publisher
National Center for Biotechnology Information (US), Bethesda (MD)
NLM Citation
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-. 01q213.