Mental retardation and congenital malformations associated with a ring chromosome 9.
A 46,XY,r(9) (p24q34) complement was observed in a 35-month-old boy with multiple congenital anomalies. The main clinical features included intrauterine growth retardation, dwarfism, microcephaly, peculiar face, undescended testes, seizures and severe psychomotor retardation. It appears that 4 reported cases of r(9) can be divided into two groups. Three of them, including the present case, share clinical features with those of cases with 9p--. On the other hand, one case showed a different combination of malformations.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D003582:Cytogenetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male