A case of Prader Willi syndrome with del 15 (q11-->q13).
Cytogenetic analysis was performed on a four-year-old girl with obesity, mental retardation, recurrent febrile convulsions and a provisional diagnosis of Prader Willi syndrome. High-resolution banding was done to observe the subchromosomal deletion. An interstitial deletion (q11-->q13) on one of the 15th chromosomes was observed in all metaphases.
Tunçman
G
G
Department of Medical Biology, Ankara University Faculty of Medicine.
Tükün
A
A
Yalaz
K
K
Bökesoy
I
I
D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000473:pathology; D008677:Metaphase; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*