PMID: 20327547May 25, 1963Paper

Human Chromosomes: II. Preparation, Analysis and Diagnostic Implications of Abnormalities

Canadian Medical Association Journal
K L Moore, J C Hay


This presentation is designed to show the diagnostic implications of chromosomal abnormalities, and how in some cases chromosome analysis may be helpful in prognosis and counselling. Most males with Klinefelter's syndrome have chromatinpositive nuclei and an abnormal sex chromosome complex (usually XXY). In Turner's syndrome many such females have chromatin-negative nuclei and a deficient sex chromosome complex (usually XO). Multiple-X females have unusual chromatin patterns (two or three masses of sex chromatin) and abnormal sex chromosome complexes (XXX, XXXX, XO/XXX, etc.). One of the parents of a translocation mongol may carry a translocation chromosome and pass it to future children. Cytogenetic data are therefore essential for genetic counselling. Mosaic and deletion mongols may show incomplete manifestations of mongolism, which make diagnosis difficult; chromosome analysis is helpful in diagnosis, and in prognosis concerning mental development. Abnormal chromosome numbers result from non-disjunction, usually during gametogenesis. The error may occur, however, during cleavage, producing cells with different chromosome complements (mosaicism). Visible structural abnormalities of chromosomes result from deletions or translo...Continue Reading


Oct 15, 1960·Lancet·M D HAYWARD, B D BOWER
Sep 1, 1961·The American Journal of Medicine·K HIRSCHHORN, H L COOPER
Nov 24, 1960·The New England Journal of Medicine·K HIRSCHHORNH L COOPER
Jan 1, 1961·Chromosoma·K PATAUR I DEMARS
Dec 12, 1959·British Medical Journal·D G HARNDEN, J S STEWART
Jun 4, 1960·Lancet·P JacobsJ A STRONG

Related Concepts

Cell Nucleus
Congenital Chromosomal Disease
Gene Deletion
Genetic Counseling
Klinefelter Syndrome
Chromosomal Translocation

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