Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST

Autor:	D R, Guillén, A, Lowichik, N R, Schneider, D S, Cohen, S, Garcia, A R, Zinn
Rok vydání:	1997
Předmět:	RNA Untranslated X Chromosome Adolescent Infant Newborn Chromosome Banding Karyotyping Humans Prune Belly Syndrome Abnormalities Multiple Female RNA Long Noncoding Ring Chromosomes Fetal Death Gene Deletion In Situ Hybridization Fluorescence Transcription Factors
Zdroj:	American journal of medical genetics. 70(1)
ISSN:	0148-7299
Popis:	Ring X chromosomes that lack the X inactivation center and fail to be inactivated have been implicated as a cause of mental retardation and multiple congenital anomalies. We report on a stillborn fetus with karyotype mos45,X/46,X,r(X) and early urethral obstruction or prune-belly sequence, single umbilical artery, limb deficiency, horseshoe kidney, cardiac hypertrophy, persistent left superior vena cava, and axial skeleton abnormalities. Fluorescent in situ hydridization (FISH) studies confirmed that the ring chromosome is X-derived and demonstrated that it lacks the XIST locus. The findings in this fetus are discussed with regard to the spectrum of phenotypes associated with monosomy X and small ring X chromosomes.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::18f6d7d6964858561e3d17ada84fbb85 https://pubmed.ncbi.nlm.nih.gov/9129738 Zobrazit plný text záznamu Plný text