Partial trisomy 7q and probable partial monosomy of 5p in the son of a mother with a reciprocal translocation between 5p and 7q

An underweight male newborn revealed a complex pattern of abnormal findings including severe neurologic dysfunction, a catlike cry, defective ossification of the calvarian bones, hypertelorism, downward slanting palpebral fissures, epicanthal folds, a short and flat nose with a flattened bridge, broad thumbs, clenched fingers 3–5 on the right hand, simian creases, a congenital heart defect, internal hydrocephalus, and bilateral hydronephrosis. He died on day 26 of his life. Chromosome examination disclosed a maternally inherited reciprocal translocation between 5p and 7q, resulting most probably in monosomy of 5q15 and trisomy of 7q32→qter (46,XY, der (5), t(5;7)(p15;q32)mat)