RECIPROCAL TRANSLOCATION-4-11 WITH BOTH ADJACENT-1 SEGREGANTS VIABLE WITHIN A FAMILY

We describe a family carrying a balanced 4;11 translocation in which b oth adjacent-1 segregants are viable. The proband had an unbalanced ka ryotype: 46,XY,der(11)t(4;11)(q34.3;q23.1)mat. At 8.5 years of age he showed trigonocephaly, hypertelorism, epicanthal folds, down-slanting palpebral fissures, low-set ears, anteverted nares, down-turned carp-s haped mouth, and bilateral fifth finger clinodactyly. His maternal aun t was also dysmorphic with high-arched palate, short philtrum and mild developmental delay. Her karyotype was 46,XX,der(4)t(4;11)(q34.3;q23. 1)pat. Other relatives who likely carried a chromosomally unbalanced s egregant were identified from photographs and medical records. We comp are the clinical findings in our family with descriptions of other sim ilar karyotypic abnormalities from previous case reports.