CHROMOSOME ANALYSES IN A CHILDREN'S HOSPITAL

• Published in: Pediatrics (Evanston) Vol. 33; no. 2; pp. 290 - 305
• Main Authors: Warkany, Josef, Weinstein, E. David, Soukup, Shirley W., Rubinstein, Jack H., Curless, Mary C.
• Format: Journal Article
• Language: English
• Published: 01-02-1964
• ISSN: 0031-4005; 1098-4275
• DOI: 10.1542/peds.33.2.290

SINCE 1956 the chromosome number of man has been 2 and it has become possible to classify human chromosomes according to size and position of the centromere. Physicians became interested in chromosome analyses when it was found in 1959 that patients with mongolism or Down's syndrome, with Klinefelter's syndrome and with Turner's syndrome showed specific chromosomal abnormalities. These could be demonstrated in cells derived from fascia, skin, or bone marrow after their culture and exposure to colchicine and hypotonic saline. When it became possible to make chromosome preparations of leukocytes cultured from human peripheral blood, many areas of medicine could more readily be investigated with chromosome studies. It was soon found that the number of human beings with chromosomal abnormalities was larger than at first suspected. Moreover, chromosomal aberrations were found not only in patients with pathologic states but also occasionally in phenotypically normal persons. Many sciences and medical specialities have become interested in human chromosome analyses Which already have changed theoretical concepts and practical approaches in many fields. Pediatrics, with its own interests and problems, has also been considerably influenced by these new developments. Findings in children have been recorded in numerous case reports which are often published in journals not regularly read by pediatricians. Although good general reviews on chromosomes in normal and abnormal human beings are available, it may be of interest to pediatricians to learn of the results of chromosome analyses in a children's hospital and affiliated institutions where patients were chosen from a pediatric point of view and where so-called negative results (i.e., normal chromosomal patterns) are as important as positive ones.