| Literature DB >> 24279999 |
Chih-Ping Chen1, Shuan-Pei Lin2, Schu-Rern Chern3, Yu-Ling Kuo4, Peih-Shan Wu5, Yu-Ting Chen3, Meng-Shan Lee6, Wayseen Wang7.
Abstract
We present array comparative genomic hybridization (aCGH) characterization of an unbalanced X-autosome translocation with an Xq interstitial segmental duplication in a 16-year-old girl with primary ovarian failure, mental retardation, attention deficit disorder, learning difficulty and facial dysmorphism. aCGH analysis revealed an Xq27.2-q28 deletion, an 11q24.3-q25 duplication, and an inverted duplication of Xq22.3-q27.1. The karyotype was 46,X,der(X)t(X;11)(q27.2;q24.3) dup(X)(q27.1q22.3). We discuss the genotype-phenotype correlation in this case. Our case provides evidence for an association of primary amenorrhea and mental retardation with concomitant unbalanced X-autosome translocation and X chromosome rearrangement.Entities:
Keywords: 11q duplication; BAC; E2; FISH; FSH; LH; OMIM; Online Mendelian Inheritance in Man; Primary amenorrhea; X-autosome translocation; Xq deletion; Xq duplication; aCGH; array comparative genomic hybridization; bacterial artificial chromosome; del; deletion; der; derivative chromosome; dup; duplication; estradiol; fluorescence in situ hybridization; follicle stimulating hormone; luteinizing hormone; t; translocation
Mesh：
Year: 2013 PMID： 24279999 DOI： 10.1016/j.gene.2013.11.026
Source DB: PubMed Journal: Gene ISSN： 0378-1119 Impact factor: 3.688