RT Journal Article
SR Electronic
T1 Familial mental retardation associated with balanced chromosome rearrangement rcp t(8;11)(q24.3;p15.1).
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 642
OP 644
DO 10.1136/jmg.26.10.642
VO 26
IS 10
A1 Sato, H
A1 Takaya, K
A1 Nihira, S
A1 Fujita, H
YR 1989
UL http://jmg.bmj.com/content/26/10/642.abstract
AB 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.