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Discover Pediatric Collections on COVID-19 and Racism and Its Effects on Pediatric Health

American Academy of Pediatrics
Article

PROGNOSIS IN NEWBORN INFANTS WITH X-CHROMOSOMAL ABNORMALITIES

Eleanor Eller, William Frankenburg, Mary Puck and Arthur Robinson
Pediatrics April 1971, 47 (4) 681-688;
Eleanor Eller
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William Frankenburg
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Mary Puck
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Arthur Robinson
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Abstract

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.

  • Received September 14, 1970.
  • Accepted November 24, 1970.
  • Copyright © 1971 by the American Academy of Pediatrics

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Pediatrics
Vol. 47, Issue 4
1 Apr 1971
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PROGNOSIS IN NEWBORN INFANTS WITH X-CHROMOSOMAL ABNORMALITIES
Eleanor Eller, William Frankenburg, Mary Puck, Arthur Robinson
Pediatrics Apr 1971, 47 (4) 681-688;

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PROGNOSIS IN NEWBORN INFANTS WITH X-CHROMOSOMAL ABNORMALITIES
Eleanor Eller, William Frankenburg, Mary Puck, Arthur Robinson
Pediatrics Apr 1971, 47 (4) 681-688;
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