Cleft palate and multiple anomalies in one of two siblings with partial 13 trisomy.
Siblings with multiple congenital anomalies secondary to familial partial trisomy of chromosome number 13 are described. In addition to other findings, the younger child exhibited a cleft of the soft palate. The mechanism of transmission of the chromosomal abnormalities, the relationship of the physical abnormalities and the chromosome findings, and the significance of these findings in the consideration of recurrence risks in future pregnancies are discussed.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D014178:Translocation, Genetic; D014314:Trisomy