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 5p15 and trisomy of 7q32 leads to qter (46,XY,der(5), t(5;7)(p15;q32)mat).
D000015:Abnormalities, Multiple / Q000235:genetics*; D000782:Aneuploidy; D002869:Chromosome Aberrations; D002905:Chromosomes, Human, 4-5; D002906:Chromosomes, Human, 6-12 and X; D005111:Extrachromosomal Inheritance; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy