Clinical features of monosomy 10qter

The authors report a 10qter deletion in a 16-month-old boy. The patient's phenotype includes: low birth weight, mental and growth retardation, triangular facies, hypertelorism, prominent nasal bridge, malformed and low set ears, cryptorchidism. The karyotype was 46,XY,del(10)(q26.1 leads to qter). Cytogenetic analysis of both parents, including a search for the fragile site in the 10q25 region, were normal. The assignment of the human GOT structural gene to the 10q25.3 band is suggested.