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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- Ofner L, Raedle J, Windpassinger C, Schwarzbraum T, Kroisel P M, Wagner K, Petek E.: Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene. J. Hum. Genet. DOI=10.1007/s10038-005-0333-x; 51:141-145, 2005; 2006. [PubMed: 16365682]Patient SL was born in 1993.46,XX,del(5)(q21.1q23.1)de novo,The size of the deletion is 18 Mb.The patient was referred because of failure to thrive and MR.Aberration: Interstitial deletionChromosomal Aneuploidy: 5q-Index Terms: APC
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