Deletion of the long arm of chromosome 4 [46,XX,del(4)(q31)] in a patient with congenital anomalies.
A girl with congenital malformations and del 4(q31), identified by QFQ- and RFA- techniques, is described. The clinical findings are compared with the four cases of 4q- of the literature. Evident variability of the clinical features and the small number of cases of 4q- does not allow the delineation of a clinical syndrome.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002905:Chromosomes, Human, 4-5; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping