Reciprocal translocation 4; 11 with both adjacent‐1 segregants viable within a family

Abstract

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.