학술논문
Phenotypic manifestation in a child with 46,X,der(X)t(X;1)(q24;q31.1)
Document Type
Article
Author
Source
American Journal of Medical Genetics. Part A; 24 April 2000, Vol. 91 Issue: 5 p345-347, 3p
Subject
Language
ISSN
15524825; 15524833
Abstract
We report on a 5-year-old girl with multiple congenital anomalies, developmental delay, and a de novo unbalanced translocation between chromosomes X and 1[46,X,der(X)-t(X;1)(q24;q31.1)] resulting in partial trisomy 1q and partial monosomy Xq. The karyotype shows inactivation of the abnormal X chromosome. The translocated portion of 1q remains active in the tissues studied. This is the third case report with partial trisomy 1q and partial monosomy Xq. However, it is the first with specific breakpoints at 1q31.1 and Xq24. Am. J. Med. Genet. 91:345347, 2000. © 2000 Wiley-Liss, Inc.