[Interstitial deletion of a chromosome nr. 13: a new syndrome? (author's transl)].
We report on a 7-year-aged girl with severe mental and physical retardation, short stature and malformations of the face and limbs. In the karyogramm an interstitial deletion of the long arm of a chromosome Nr. 13 was found. The karyotypes of the parents, the girl's brother and of three of her sisters were normal. In the discussion the symptoms of the few hitherto published cases with interstitial or terminal deletion of the chromosome 13 are compared. Till now, however, it is not possible to attach particular symptoms of 13q- -- syndromes to certain bands of the chromosome Nr. 13.
D002648:Child; D002653:Child Behavior Disorders / Q000235:genetics; D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D013577:Syndrome
Interstitieller Stückverlust am Chromosom Nr. 13: Ein neues Syndrom?