De novo 18q deletion with mitral valve insufficiency

Autor:	S, Gunes, G, Okten, N, Kara, Y, Saglam, H A, Tasdemir, O Eroğlu, Kayacik, S, Tural
Rok vydání:	2008
Předmět:	Mitral Valve Prolapse Adolescent Turkey Facies Mitral Valve Insufficiency Deafness Tricuspid Valve Insufficiency Echocardiography Intellectual Disability Karyotyping Humans Abnormalities Multiple Female Chromosome Deletion Ear External Chromosomes Human Pair 18 In Situ Hybridization Fluorescence
Zdroj:	Genetic counseling (Geneva, Switzerland). 19(3)
ISSN:	1015-8146
Popis:	We report an 18-year-old Turkish girl with an 18q- deletion and abnormalities of face, mental and growth retardation, mitral deficiency and hypothyroidism. Mitral deficiency has not been reported in 18q deletion syndrome cases previously. We performed cytogenetic and molecular cytogenetic analysis, and brain MRI. Her karyotype was 46,XX,del(18)(q21.2--qter). This report compares the symptoms and features of the present patient with previously reported cases with 18q syndrome.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::65802fdcff7749fb75040042a99d8369 https://pubmed.ncbi.nlm.nih.gov/18990980 Zobrazit plný text záznamu