Partial trisomy 15 in a male with severe psychomotor retardation (48,XY,+15q−, +mar(15))

Abstract

An abnormal karyotype consisting of 48 chromosomes has been found in a 16-year-old boy with severe psychomotor retardation and congenital anomalies. The two extra chromosomes: a 15q - and a small metacentric marker appear as derivatives of chromosome 15(48, XY, + 15q -, + mar(15). The healthy father has a mosaic chromosome constitution 46, XY/47, XY, + mar(15) and this additional chromosome is also present in the propositus. It is suggested that the presence of the extra chromosome in the father's germ cells may play a role in the production of the additional 15q - chromosome responsible for the clinical syndrome of the propositus.

Autism and maternally derived aberrations of chromosome 15q

“…Microcephaly is more common than macrocephaly, but both are reported. Other findings are variable and inconsistent but include minor facial Cook et al, 1997;Battaglia et al, 1997;Flejter et al, 1996;Abuelo et al, 1995;Crolla et al, 1995;Blennow et al, 1995;Hotopf et al, 1995;Baker et al, 1994;Cheng et al, 1994;Leana-Cox et al, 1994;Towner et al, 1993;Plattner et al, 1993;Ghaziuddin et al, 1993;Robinson et al, 1993;DeLorey et al, 1992;Callen et al, 1992;Gillberg et al, 1991;Plattner et al, 1991;Shibuya et al, 1991;Lazarus et al, 1991;Nicholls et al, 1989;Maraschio et al, 1988;Wisniewski et al, 1985;Gilmore et al, 1984;Yip et al, 1982;Voss et al, 1982;Schinzel et al, 1981;Maraschio et al, 1981;Zanotti et al, 1980;Mattei et al, 1980;Wisniewski et al, 1979;DeFalco et al, 1978;Hongell et al, 1978;Van Dyke et al, 1977;Schreck et al, 1977;Power et al, 1977;Watson et al, 1977;Rasmussen et al, 1976;Pfeiffer et al, 1976;Centerwall et al, 1975;Crandall et al...…”

Partial trisomy of chromosome 15q and partial monopsony of 6q due to maternal balanced translocation

“…Also, our patient had strabismus and flexion deformities of fingers and toes, which have been reported in very few patients with this disorder. [8] The second chromosome involved in our case is chromosome 6 and some features like ventriculomegaly and hypoplasia of corpus callosum, might be contributed by the terminal monosomy of chromosome 6. [910] Our case thus helps in expanding the spectrum of partial trisomy 15.…”