Partial 3q trisomy due to an unbalanced 3/10 translocation

Abstract

A newborn with partial 3q trisomy is reported. This female, small for gestational age, had multiple dysmorphic features, including turricephaly, microcephaly, broad and flat nasal bridge, anteverted nares, small ears, short limbs, bilateral transverse palmar creases, and fifth finger clinodactyly. The patient expired at 20 hours of age. An autopsy demonstrated duplication of the vagina and cervix, a bicornuate uterus, and streak ovaries. Cytogenetic studies revealed the patient to be trisomic for the portion of 3q distal to band 21 [46, XX,-10,t(3;10)(q21;p15)]. The father was found to carry a balanced 3/10 translocation [46,XY,t(3;10)(q21;p15)].