TRISOMY D1 syndrome is a recently described disorder characterized by a broad spectrum of multiple congenital anomalies and associated with the presence of an extra chromosome of the D (13-15) group.1,2 Besides the typical pattern of clinical abnormalities, there is, in addition, persistence of embryonic hemoglobins,3 unusual neutrophil abnormalities,4 and characteristic dermatoglyphic findings5 (Table).
This report describes two patients affected with a "forme fruste" of trisomy D1 syndrome. Cytogenetic and deoxyribonucleic acid (DNA) replication analysis of the patient's chromosome patterns demonstrated extra chromosomal material interpreted as partial trisomy D1. Correlation of the cytogenetic observations with the phenotypic findings in these patients has enabled preliminary efforts at mapping of the Di chromosome.
Report of Cases
Patient A.—This is a 27-month-old white girl who was born, after an uncomplicated full-term pregnancy, to a 20-year-old mother and a 22-year-old father. The birth weight was