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 both adjacent-1 segregants are viable. The proband had an unbalanced karyotype: 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-shaped mouth, and bilateral fifth finger clinodactyly. His maternal aunt 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 segregant were identified from photographs and medical records. We compare the clinical findings in our family with descriptions of other similar karyotypic abnormalities from previous case reports.