Stanley Walzer

A chromosome survey of 2,400 normal newborn infants

In order to ascertain the variety and frequency of chromosome abnormalities among normal individuals, a chromosome survey of a large number of newborn infants is in progress. This report describes the results obtained from an abbreviated chromosome analysis of 2,400 phenotypically normal newborn infants. Even though this method provides only a minimal estimate, 13 major chromosome abnormalities were observed. These included 4 instances of sex-chromosome aneuploidy and 9 instances of structural rearrangements. Two instances of the centric fusion type of D/D translocation and 3 instances of an extra, small, metacentric chromosome in addition to a normal karyotype were observed.

720 COMMUNICATION SKILIS AMONG UNSELECTED XXY BOYS

Previous studies of XXY boys from biased sources of ascertainment have suggested a risk for communication disorders, and ongoing longitudinal prospective studies of unselected XXY boys have demonstrated early lags in speech development. This study compares the communication skills of a group of 14 unselected XXY boys ascertained during a neonatal screening survey with a group of 15 normal control boys, matched for age, grade, performance IQ, birth weight, parental age and education, parity and socioeconomic status. Although the XXY group did not significantly differ from the control group in performance IQ, they did demonstrate a significant reduction in verbal IQ (p≤0.001), which resulted in a reduced full scale IQ (p≤0.01). The reduction in verbal IQ was correlated with significant reductions in auditory processing abilities, auditory memory, and expressive language. Of particular interest was the demonstration of word-finding difficulties and problems in the use of syntax as major factors in the expressive language deficit. Except for difficulties with syntax, receptive language skills were relatively normal. These results suggest that left-hemisphere-based difficulty in serial order processing may be associated with the XXY anomaly, as compared with right-hemisphere deficits in spatial processing that have been associated with XO Turner syndrome.