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, 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.
Gunes
S
S
Ondokuz Mayis University, Faculty of Medicine, Department of Medical Biology and Genetics, Samsun, Turkey. sgunes@omu.edu.tr
Okten
G
G
Kara
N
N
Saglam
Y
Y
Tasdemir
H A
HA
Kayacik
O Eroğlu
OE
Tural
S
S
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D003638:Deafness / Q000175:diagnosis / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities; D004452:Echocardiography; D019066:Facies; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008944:Mitral Valve Insufficiency / Q000175:diagnosis / Q000235:genetics*; D008945:Mitral Valve Prolapse / Q000175:diagnosis / Q000235:genetics; D014262:Tricuspid Valve Insufficiency / Q000175:diagnosis / Q000235:genetics; D014421:Turkey