De novo 18q deletion with mitral valve insufficiency

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,...

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Published inGenetic counseling Vol. 19; no. 3; pp. 261 - 265
Main Authors Gunes, S, Okten, G, Kara, N, Saglam, Y, Tasdemir, H A, Kayacik, O Eroğlu, Tural, S
Format Journal Article
LanguageEnglish
Published Switzerland Éditions Médecine et Hygiène 01.01.2008
Subjects
Abnormalities, Multiple - genetics
Adolescent
Chromosome Deletion
Chromosomes, Human, Pair 18
Deafness - diagnosis
Deafness - genetics
Ear, External - abnormalities
Echocardiography
Facies
Female
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability - genetics
Karyotyping
Mitral Valve Insufficiency - diagnosis
Mitral Valve Insufficiency - genetics
Mitral Valve Prolapse - diagnosis
Mitral Valve Prolapse - genetics
Tricuspid Valve Insufficiency - diagnosis
Tricuspid Valve Insufficiency - genetics
Turkey
Turkey
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Summary: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.
Bibliography:ObjectType-Case Study-2
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ISSN:1015-8146