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PMID: 146741 Published · ppublish English Case Reports Journal Article Research Support, U.S. Gov't, P.H.S.

Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3).

Journal of medical genetics ·Vol. 14 ·No. 6 ·1977-12-00 ·Pages 459-62

Sanchéz O, Mamunes P, Yunis JJ

Abstract

A patient with a double partial trisomy 20 and 21 with mild mental retardation and multiple congenital anomalies is presented. Despite trisomy for a substantial portion of chromosome 21, the patient showed only minor stigmata compatible with Down syndrome.

MeSH Terms

Abnormalities, Multiple/genetics Adult Child, Preschool Chromosome Aberrations Chromosomes, Human, 19-20 Down Syndrome/complications,genetics Female Humans Infant Karyotyping Trisomy

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Sanchéz O

Mamunes P

Yunis J J

References (4)

4 references, click to expand

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
Partial trisomy 11 in a child resulting from a complex maternal rearrangement of chromosomes 11, 12 and 13.
Humangenetik. 1974 Apr 24;22(1):59-65 PMID: 4134840
The G-banded prophase chromosomes of man.
Humangenetik. 1975;27(3):167-72 PMID: 50274
Trisomy for the distal half of the short arm of chromosome 9. A variant of the trisomy 9p syndrome.
Am J Dis Child. 1976 Jun;130(6):663-7 PMID: 937286

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.14.6.459

Published

1977-12-00

Pages

459-62

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1013646

Subset

External Links

PubMed source DOI: 10.1136/jmg.14.6.459 PMC Full Text View journal details

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Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3).

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