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PMID: 304705 Published · ppublish fre Case Reports English Abstract Journal Article

[Partial trisomy 13 due to maternal translocation t(2;13)].

Trisomie 13 partielle par translocation t(2;13) maternelle.

Annales de genetique ·Vol. 20 ·No. 3 ·1977-09-00 ·Pages 203-8

Giraud F, Mattei JF, Mattei MG

Abstract

The authors report an observation of partial trisomy 13p13 leads to qter and suggest a clinical map of chromosome 13. Increase of fetal hemoglobin seems to be controlled by region 1 of 13q. Bands q13 q14 and q21 seem to be responsible for inner organ malformations. Lastly, the distal segment q22 leads to qter is responsible for trigonocephaly and limb abnormalities.

MeSH Terms
Chromosome Mapping Chromosomes, Human, 13-15 Female Humans Infant, Newborn Pedigree Translocation, Genetic Trisomy
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Giraud F
Mattei J F
Mattei M G
Article Info
Journal
Annales de genetique
Abbr.
Ann Genet
ISSN
0003-3995
Published
1977-09-00
Pages
203-8
Language
fre
Region
Netherlands
NLM ID
0370562
Subset
IM
External Links
PubMed source
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