Familial mental retardation associated with balanced chromosome rearrangement rcp t(8;11)(q24.3;p15.1).
We report three sisters and their father with a reciprocal balanced translocation, rcp t(8;11)(q24.3;p15.1) and the same abnormal phenotypes, including mental retardation, growth disturbance, and amblyopia. It is considered that the abnormal phenotypes in our four cases might result from a tiny deletion or gene mutation at the breakpoints in 8q or 11p or both. Our cases showed no resemblance, apart from mental retardation, to Langer-Giedion syndrome, which is caused by the deletion of 8q23.3 and 8q24. Furthermore, our patients did not have the cardinal features of Beckwith-Wiedermann syndrome or WAGR which are caused by deletion of 11p. It is suggested that the amblyopia in our four cases might have resulted from the breakpoints at 11p15.1.
Sato
H
H
Department of Education for Handicapped Children, Shiga University, Japan.
Takaya
K
K
Nihira
S
S
Fujita
H
H
D000328:Adult; D000550:Amblyopia / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic