Partial deletion of the long arm of chromosome 13 (q32q33.2) associated with mental retardation, choanal atresia and fish mouth.
13q deletion syndrome is characterized by mental and motor retardation, craniofacial dysmorphic facial appearance and various congenital malformations. In this article, we present a new case with 13q deletion syndrome phenotypically characterized by fish mouth, choanal atresia and severe mental and motor retardation. In order to determine the certain localization of deleted region high resolution multicolor-banding technique was performed and the karyotype determined as 46,XX,del(13)(q32q33.2). To come in future to a genotype-phenotype correlation, it is very important to delineate the deleted region in such cases in detail by cytogenetic/ molecular cytogenetic methods.
Balci
S
S
Department of Clinical Genetics, Ihsan Dogramaci Children Hospital Hacettepe University Faculty of Medicine, Ankara, Turkey. sbalci@hacettepe.edu.tr
Yuksel Konuk
B
B
Atik
F
F
Oguz
A K
AK
Ergun
M A
MA
Baltaci
V
V
Kosyakova
N
N
Liehr
T
T
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002754:Choanal Atresia / Q000175:diagnosis / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D009056:Mouth Abnormalities / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D013576:Syndactyly / Q000175:diagnosis / Q000235:genetics; D014034:Toes / Q000002:abnormalities