13q211

Digamber S Borgaonkar

13q211

13q21.1

Publication Details

Same entry as in 13q133 (Ballarati et al, 2007).
Same entry as in 13q133 (Brecevic et al, 2000).
Same entry as in 13p110 (Brandt C A et al, 1992).
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,IC
Index Terms: Neocentromere
Same entry as in 13q131 (Tranebjaerg et al, 1988).
Same entry as in 13q130 (Turleau et al, 1983).
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)dn
Aberration: Interstitial deletion
MIM#: 277580
Chromosomal Aneuploidy: 13q-
Index Terms: Endothelin-B receptor locus

Publication Details

Copyright

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-. 13q211.