DELETION OF SHORT ARM OF CHROMOSOME 18 WITH NORMAL LEVELS OF IgA.

The article presents a case of deletion of short arms of chromosome 18 with normal values of IgA in serum. The patient was a male infant. On physical examination at 31 hours of age, the propositus showed a severe cleft lip, total absence of hard palate, agenesia of the premaxillary process and of nasal bones. Other features were large and low set ears; micrognathia and retrognathia; microcephaly and brachycephaly; low-hairline, short neck; balanoprecupial hypospadias, muscular hypotony and elongated fingers.