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Prognosis in newborn infants with X-chromosomal abnormalities.

Sex-chromosomal aberrations occur with a relatively high frequency and have been associated with mental retardation, perceptual problems, psychopathology, and growth abnormalities. Identification of this possibly high risk group at birth enables the study of their growth and development to determine if and when they deviate from normal. Routine screening of the chromatin constitution of 21,214 consecutive newborn infants has identified 32 babies with gross X chromosome abnormalities. Three died in the newborn period. During the past 5 years, 27 children have been followed from birth. The evaluation process consists of semiannual and annual physical and developmental examinations, psychological testing, growth measurements, pedigree analysis, dermatoglyphic analysis, home environment evaluation, and, in mosaics, repeated chromosome analysis. The patients with 45,X karyotypes have classical physical signs. The other patients have normal phenotypes, although several have minor physical manifestations such as clinodactyly and epicanthic folds. Overall development in all except two patients has been within normal limits. In mosaics, there is a tendency for the abnormal cell line to disappear.