Parental Origin of the Extra Chromosome in Trisomy 21 as Indicated by Analysis of DNA Polymorphisms

TRISOMY 21 is the most common chromosomal abnormality among children and the most common genetic cause of mental retardation. Since the early 1970s, inherited morphologic variations of the short arms of chromosomes seen in karyotypes (i.e., chromosomal heteromorphisms) have been used in families tha...

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Bibliographic Details
Published inThe New England journal of medicine Vol. 324; no. 13; pp. 872 - 876
Main Author Antonarakis, Stylianos E
Format Journal Article
LanguageEnglish
Published Boston, MA Massachusetts Medical Society 28.03.1991
Subjects
Biological and medical sciences
Children
Children & youth
Chromosome 21
Chromosome aberrations
Chromosomes
Collagen (type VI)
Cytogenetics
Deoxyribonucleic acid
DNA
Families & family life
Genetic markers
Genetics
Laboratories
Medical genetics
Medical sciences
Medicine
Nondisjunction
Pediatrics
Trisomy
Chromosomal aberration
Human
Trisomy
DNA
Aneuploidy
Child
G21-Chromosome
Polymorphism
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Summary:TRISOMY 21 is the most common chromosomal abnormality among children and the most common genetic cause of mental retardation. Since the early 1970s, inherited morphologic variations of the short arms of chromosomes seen in karyotypes (i.e., chromosomal heteromorphisms) have been used in families that have a child with trisomy 21 to determine the parental origin of the extra chromosome. 1 , 2 The results of the major published studies have been summarized by Hassold and Jacobs. 3 Of a total of 647 families studied, the parental origin of the extra chromosome was determined in 391. The studies of chromosomal heteromorphisms suggested that the origin . . .
ISSN:0028-4793
1533-4406
DOI:10.1056/NEJM199103283241302