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PMID: 853318 Published · ppublish English Case Reports Journal Article

Partial trisomy 14q -- and parental translocation of No. 14 chromosome. Report of a case and review of the literature.

Journal of medical genetics ·Vol. 14 ·No. 2 ·1977-04-00 ·Pages 124-7

Simpson J, Zellweger H

Abstract

A case of partial trisomy 14 (47, + 14q-) is presented. The proband's mother had a balanced translocation of 14q with the long arm of a No. 3 chromosome. Clinical and cytogenetic findings of this case are compared with 5 other cases of 47, + 14q-, in which one parent had a balanced translocation of the distal part of the No. 14 long arm to another chromosome. It appears that this chromosomal aneuploidy produces a fairly typical clinical picture.

MeSH Terms
Chromosome Aberrations Chromosomes, Human, 13-15 Cleft Palate/genetics Female Humans Infant Intellectual Disability/genetics Karyotyping Microcephaly/genetics Pedigree Psychomotor Disorders/genetics Translocation, Genetic Trisomy
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Simpson J
Zellweger H
References (14)
14 references, click to expand
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    J Genet Hum. 1975 Oct;23 SUPPL:134 PMID: 1214145
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.14.2.124
Published
1977-04-00
Pages
124-7
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1013527
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.14.2.124 PMC Full Text View journal details
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