CHROMOSOME ANALYSES IN A CHILDREN'S HOSPITAL

• Published in: Pediatrics (Evanston) Vol. 33; no. 3; pp. 454 - 465
• Main Authors: Warkany, Josef, Weinstein, E. David, Soukup, Shirley W., Rubinstein, Jack H., Curless, Mary C.
• Format: Journal Article
• Language: English
• Published: 01-03-1964
• ISSN: 0031-4005; 1098-4275
• DOI: 10.1542/peds.33.3.454

Chromosome analyses were performed in 227 persons, most of them pediatric patients. The majority of these were selected because of mongolism, other forms of mental retardation, congenital malformations, and sex anomalies. Some normal persons were also included in the study. Most of these were relatives of the patients.
Patients with Down's syndrome (mongolism) were selected because of low maternal age, familial recurrence, leukemia, and other reasons. Most of these patients had regular trisomy 21 mongolism but other cytogenetic types were also discovered and described.
No trisomy 13-15 syndrome was found but there were six trisomy 18 patients. Two children with multiple congenital malformations were examined and noted to be mosaics having in addition to normal cell lines, cells with trisomy 13-15 and trisomy 18 respectively.
Other patients with various congenital malformations including isolated congenital heart disease had normal cytogenetic patterns.
No typical Klinefelter's syndrome was encountered in a child. Several patients with Turner's syndrome, including one "male Turner's syndrome," and several cases of male pseudohermaphroditism were described.
Applications of the new cytogenetic methods and findings to clinical diagnosis and genetic prognosis were discussed.