Posterior choanal atresia (PCA) was observed in a brother and sister and their paternal aunt from a Yemenite family in which several cousin marriages had taken place. Such an occurrence may be compatible with autosomal recessive inheritance. In some cases PCA evidently is an autosomal dominant trait. However, its mostly sporadic occurrence with sex preference suggests that multifactorial determination may play an important role.
A six-week-old female infant with multiple congenital anomalies including a hypoplastic left-heart malformation was found to have duplication of 12p. OnIy two of 17 previously reported cases of dup (1 2p) had congenital heart disease, and both had hypoplastic left-heart abnormality.
A black female infant with multiple congenital anomalies was found to have partial trisomy of chromosome 4, which included all of the short arm and the proximal 20% of the long arm. The chromosomal aberration, to our knowledge, has not been previously reported. Clinically, the infant had a good degree of resemblance to cases of 4p trisomy.
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