[Unbalanced translocation 8/X in a girl].
A girl with mild psychomotoric retardation, dysmorphic stigmata, feeding difficulties and recurrent infections is described, who has been observed from the age of 7 months to 3 2/12 years. Chromosomal analysis revealed an unbalanced X-autosomal translocation between the greater parts of the long arm of an X-chromosome and the long arm of an chromosome 8 resulting in a partial trisomy 8q and partial monosomy Xq.
Ickstadt
A
A
Kinderabteilung des Kreiskrankenhauses Gelnhausen, Akademisches Lehrkrankenhaus der Universität Frankfurt.
Palitzsch
D
D
Foerster
W
W
Fuhrmann-Rieger
A
A
D000015:Abnormalities, Multiple / Q000235:genetics; D002657:Child Development; D002675:Child, Preschool; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D009030:Mosaicism; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014178:Translocation, Genetic; D014314:Trisomy; D014960:X Chromosome
Unbalancierte Translokation 8/X bei einem Mädchen.