Nonimmune fetal hydrops and Down syndrome.

Six infants with nonimmune fetal hydrops (NIFH) were found to have trisomy 21 (Down syndrome). A cardiac malformation was present in three of these infants. The manifestations of Down syndrome was obscured by the generalized edema at birth. The association of Down syndrome and NIFH emphasizes the need for chromosome analysis in the workup of infants or fetuses with NIFH.

New autosomal dominant branchio-oculo-facial syndrome.

We observed an autosomal dominant disorder of abnormal upper lip, which resembles a poorly repaired cleft lip, malformed nose with broad bridge and flattened tip, lacrimal duct obstruction, malformed ears, and branchial cleft sinuses and/or linear skin lesions behind the ears in several persons in 3 families. In each of the 3 families, an affected parent had at least one affected child. Father-to-son transmission in one of these families ruled out X-linked inheritance. Other anomalies include coloboma, microphthalmia, auricular pits, lip pits, highly arched plate, dental anomalies, and subcutaneous cysts of the scalp. Premature graying of hair occurred in the affected adults. Growth retardation, developmental delay, and hand anomalies are variable components of the syndrome.

Sex chromosome mosaicism of X/XY or X/XY/XYY.

To date, we have studied 7 patients with X/XY mosaicism, one of whom showed an X/XY/XYY pattern. Four patients presented as newly born infants because of incomplete male development, ambiguity of external genitalia or Turner syndrome. The other 3 patients presented in midchildhood or early adult life. Bilateral gonadectomy, histologic examination of the gonads for tumor or testicular tissue, and chromosome analysis from blood and gonad specimens (and usually skin) were done in these 7 patients. The Y cell line and mosaicism were always detected in the blood culture although the predominant cell line in the majority of tissues was 45,X. The Y chromosome in one of the patients failed to show the expected bright fluorescence over the long arm, and the Y chromosome of another patient previously reported had a terminal nonfluorescing portion of the long arm. Patients with masculinization showed normal height and, on laparotomy, mixed gonadal dysgenesis. Patients with Turner syndrome showed bilateral streak gonads (2) and, in one 2 1/2-year-old girl, a bilateral gonadoblastoma. All patients with Turner syndrome were less than the third percentile in height. All 7 patients were reared as female, 4 of them requiring surgery to diminish the size of the clitoris. All 7 patients appeared to be developing normally. Nonrecognition or delay of the diagnosis, which still occurs in this condition, appears to be a result of the mild physical abnormalities in some patients and a clinical diagnosis of Turner syndrome supported only by a negative X-chromatin result.