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PMID: 6604493 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Trisomy 20p due to a paternal reciprocal translocation.

Annales de genetique ·Vol. 26 ·No. 2 ·1983-00-00 ·Pages 94-7

Funderburk SJ, Sparkes RS, Sparkes MC

Abstract

A mentally retarded boy with multiple malformations was found to have trisomy for the distal two-thirds of the short arm of chromosome 20 (trisomy 20p), resulting from a paternal translocation (5;20)(p15;p11). The patient had a cleft palate, a feature not present in other trisomy 20p patients. A review of the reported trisomy 20p patients indicates that their varied features do no constitute a readily recognizable clinical syndrome.

MeSH Terms
Abnormalities, Multiple/genetics Child, Preschool Chromosome Banding Chromosomes, Human, 19-20/ultrastructure Humans Intellectual Disability/genetics Male Phenotype Translocation, Genetic Trisomy
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Funderburk S J
Sparkes R S
Sparkes M C
Article Info
Journal
Annales de genetique
Abbr.
Ann Genet
ISSN
0003-3995
Published
1983-00-00
Pages
94-7
Language
English
Region
Netherlands
NLM ID
0370562
Subset
IM
Grants
NICHD NIH HHS · HD-04612 · United States
NICHD NIH HHS · HD-05615 · United States
CIT NIH HHS · NCT-927 · United States
External Links
PubMed source
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