Parental origin of chromosomes in Down's syndrome

✍ Scribed by Carolina H. Manning; Harold O. Goodman

• Publisher: Springer
• Year: 1981
• Tongue: English
• Weight: 200 KB
• Volume: 59
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00293054

✦ Synopsis

The number of 21 chromosomes of 15 individuals with Down's syndrome and their parents were examined in an attempt to determine the parental origin of the extra number 21 chromosome and the stage of meiosis at which nondisjunction occurred. Chromosomes were stained with quinacrine hydrochloride and photographed; serial prints were made ranging from underexposed to overexposed. Twelve of the 15 families (80%) were informative: nondisjunction occurred in maternal meiosis I in eight (66.7%) families, in paternal meiosis I in two (16.7%) families, and in paternal meiosis II in two (16.7%) families. The production of serial exposures of chromosomes at the time of printing proved to be a valuable method of enhancing slight differences in short arm and satellite structure of the number 21 chromosomes and thereby increasing the number of informative families.