Cleft Lip and Cleft Palate in D Trisomy

Abstract

Chicago, Illinois 60680 Cleft lip and cleft palate have been reported in a majority of cases of D1 trisomy. In the original paper of Patau et al (64) the presence of an extra D chromosome was associated with cleft lip and cleft palate as well as a number of other congenital anomalies. These included mental retardation, brain abnormalities, microphthalmia, simian creases, " trigger thumb, " polydactyly, capillary hemangioma and congenital heart disease. Subsequent reports indicated that all of these abnormalities including cleft lip and cleft palate were not present in every case of D1 trisomy. The D1 trisomy syndrome occurs in association with several distinct chromosomal abnormalities. In addition to the presence of a separate full D additional chromosome in each cell, translocations resulting in D tris— omy, mosaic D trisomy and partial D trisomy have been reported. Autoradiography and the subsequent development of Q and G banding resulted in clarification of the chromosomal anomaly in the D1 trisomies. Studies indicate that almost all cases are associated with trisomy of chro— mosome 13. We have recently reviewed 17 cases of D1 trisomy from our clinics and cases reported in the literature. In this paper we are presenting our analysis of these data in reference to the presence of cleft lip and cleft palate. Case Niaterial In this study we reviewed 17 cases from our clinics (Figures 1, 2, and 3) and 158 cases collected from the literature. The data include 110 cases of regular trisomy, 30 of translocation trisomy, 17 of mosaicism and 18 of partial trisomy. Cases from our clinics include 10 of regular trisomy, 4 translocations, 2 of mosaicism and 1 of partial trisomy. The sex of the pa— tient, age of death, mother's age at delivery and findings in the oral cavity