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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- Rivera H, Vasquez A I, Garcia-Cruz D, Crolla J A.: Neocentromere at 13q32 in one of two stable markers derived from a 13q21 break. AJMG 85:385-388, 1999. [PubMed: 10398265]47,XX,del(13)(pter->q21.1:),+iace(13)(qter->q21.1::q21.1->qter).The patient was 10 months old with psychomotor retardation, microcephaly, bilateral microphthalmia, and postaxial polydactyly of the feet.Aberration: TD,ICIndex Terms: Neocentromere
- Tuysuz B, Collin A, Arapoglu M, Suyugul N.: Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus. AJMG Part A: DOI: 10.1002/ajmg.a.33031, 2009. [PubMed: 19764031]Patient 1 and 3:46,XY and XX,del(13)(q22.1-31.3)dn,Patient 2: 46,XX,del(13)(q21.1-31.3)dnAberration: Interstitial deletionMIM#: 277580Chromosomal Aneuploidy: 13q-Index Terms: Endothelin-B receptor locus
- 13q211 - Chromosomal Variation in Man13q211 - Chromosomal Variation in Man
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