Holoprosencephaly Associated with 63, XXY Karyotype: An autopsy report

ABSTRACT

Holoprosencephaly, a grave malformation during cleavage phase of brain development, occurs in association with a variety of clinical syndrome including chromosomal aberration. Among chromosomal anomalies trisomy syndromes, particularly trisomy 18, are often associated with holoprosencephaly. Triploidy with holoprosencephaly had also been described. We report an autopsy case of incomplete triploidy with abnormal sex chromosome, i.e., 63, XXY. Our case showed a marked intrauterine growth retardation, and postmortem examination revealed alobar holoprosencephaly, hypotelorism, bilateral cleft palates and lips, flat nose, microstomia, lowset ears, congenital heart disease and cystic kidney. The brain was microcephalic 5 x 6 cm and was of pancake shape. there was a large dorsal cyst. Olfactory tracts and bulbs were absent. The brain surface was smooth, and only suggestive hippocampal fissure was noted. The basal ganglia and thalami were fused in midline and the aqueductal origin was exposed. The brain stem and cerebellum were unremarkable. Repeated karyotypings revealed 63,XXY consistently. All 21 chromosomes showed trisomy except for D group. The sex chromosome was XXY, and the genital tract and gonad were those of female.