Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome)

1 July 1987

journal article
research article
Published by Springer Nature in Human Genetics

Vol. 76 (3) , 225-229
https://doi.org/10.1007/bf00283612

Abstract

A patient with the phenotype of trisomy 21 (Down syndrome) was found to have a normal karyotype in blood lymphocytes and fibroblasts. Assessment of the chromosome 21 markers SOD1, CBS, ETS2, D21S11, and BCEI showed partial trisomy by duplication of a chromosome segment carrying the SOD1, CBS, and ETS2 loci and flanked by the BCEI and D21S11 loci, which are not duplicated. This submicroscopic duplication at the interface of 21q21 and 21q22.1 reduces to about 2000–3000kb the critical segment the trisomy of which is responsible for the phenotype of trisomy 21.

Keywords

This publication has 30 references indexed in Scilit:

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene
Nature, 1986
Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome.
Proceedings of the National Academy of Sciences, 1986
Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase.
Proceedings of the National Academy of Sciences, 1986
2 DOWN-SYNDROME PATIENTS WITH REC(21),DUPQ,INV(21)(P11-Q2109) FROM A FAMILIAL PERICENTRIC-INVERSION
1986
REARRANGEMENT OF CHROMOSOME 21 IN ALZHEIMERS-DISEASE
1986
Human cytoplasmic superoxide dismutase cDNA clone: a probe for studying the molecular biology of Down syndrome.
Proceedings of the National Academy of Sciences, 1982
DOWN SYNDROME AND ACUTE LEUKAEMIA: INCREASED RISK MAY BE DUE TO TRISOMY 21
The Lancet, 1981
Trisomy 21 for the region 21q223: Identification by high-resolution R-banding patterns
Human Genetics, 1981
Confirmation of the assignment of the human SODS gene to chromosome 21q22
Cytogenetic and Genome Research, 1978
Partial trisomy 21
Clinical Genetics, 1973