Normal phenotype and partial trisomy for the G positive region of chromosome 21.

Journal of medical genetics ·Vol. 16 ·No. 3 ·1979-06-00 ·Pages 227-9

Daniel A

Abstract

A prenatally diagnosed male fetus and his mother, who was referred because of her advanced age, both carried an abnormal bisatellited chromosome 21 as an extra chromosome. The abnormal 21 was monocentric and the G negative band q22 and part of q21 had been deleted during formation. The phenotype of both the mother and child (at birth) was normal.

MeSH Terms

Adult Chromosome Banding Chromosomes, Human, 21-22 and Y Down Syndrome/genetics Female Humans Infant, Newborn Male Maternal Age Phenotype Pregnancy Prenatal Diagnosis Trisomy

Authors & Affiliations

1 authors, click to expand affiliations / ORCID

Daniel A

References (7)

7 references, click to expand

Structure and inheritance of some heterozygous Robertsonian translocation in man.
J Med Genet. 1976 Oct;13(5):381-8 PMID: 1003449
Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21.
Am J Hum Genet. 1975 Jul;27(4):478-85 PMID: 125542
Down syndrome due to partial trisomy 21q.
Clin Genet. 1977 Feb;11(2):119-21 PMID: 138496
A chromosomal abnormality in a girl with some features of Down's syndrome (mongolism).
J Pediatr. 1963 Jun;62:890-4 PMID: 13998933
Partial trisomy 21. Further evidence that trisomy of band 21q22 is essential for Down's phenotype.
Hum Genet. 1977 Aug 31;38(1):15-23 PMID: 143443
Partial trisomy 21.
Clin Genet. 1973;4(3):241-51 PMID: 4128808
Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21.
Humangenetik. 1974 Jan 22;21(1):99-101 PMID: 4276065

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.16.3.227

Published

1979-06-00

Pages

227-9

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1012698

Subset

External Links

PubMed source DOI: 10.1136/jmg.16.3.227 PMC Full Text View journal details

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Normal phenotype and partial trisomy for the G positive region of chromosome 21.

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