A CASE OF D_1-TRISOMY : HAEMATOLOGICAL AND PATHOLOGICAL FINDINGS

Abstract

A female infant was born to a 29-year old woman after a gestation of 42 weeks. Birth weight was 2460 g. The mother had aborted twice previously and one older female child was normal. During the first trimester, the mother had a viral infection, but had received no medication. The parents were not consanguineous. At 3 days after birth, the infant was admitted to Kobe University Hospital with respiratory distress and cleft lip and palate. On physical examination, she was found to have multiple congenital anomalies including cleft lip and palate, haemangioma on the face, sloping and narrowing forehead, low set ears, hypertelorism, micrognathia, rocker-bottom feet and prominent calcaneus. Thumbs overlapped the dorsa of the 2nd and 3rd fingers. Dermatoglyphic findings included high triradii, simian creases, and arch tibial pattern in the hallucal area. Chromosomal analysis of peripheral blood revealed 47 chromosomes with trisomy D : 47, XX, D+. Haematologic data were characteristic of D_1 trisomy. Neutrophils exibited hyperlobulation and nuclear appendage in peripheral blood smears. Starch gel electrophoresis of Hb performed at 40 days of age revealed absence of Hb-A_2. This pattern was similar to that of a normal new-born at 5 days of age. The patient's blood showed increased levels of Hb-F by the alkali denaturation method, and a decrease in P_<50> values and 2, 3-DPG concentrations. The infant died at 42 days of age and autopsy revealed numerous anomalies; holoprosen-cephaly (lobar type), patent ductus arteriosus, a cyst of the thyroid glands, Meckel's diverticulum, and double ureters.