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PMID: 1084117 Published · ppublish English Case Reports Journal Article Research Support, U.S. Gov't, Non-P.H.S.

Trisomy 19 q.

Annales de genetique ·Vol. 19 ·No. 1 ·1976-03-00 ·Pages 17-21

Lange M, Alfi OS

Abstract

Two sibs with trisomy for the long arm of chromosome 19 are reported. The common features included flat facial profile with microcephaly, hypertelorism, ptosis, prominence of the glabella, small nose with anteverted nostrils and a characteristic fish-shaped mouth. In addition congenital heart disease, physical retardation and seizures were seen in both sibs. That tristomy 19q can be suspected clinically is emphasized.

MeSH Terms
Abnormalities, Multiple/genetics Chromosomes, Human, 19-20 Heart Defects, Congenital/genetics Humans Infant Infant, Newborn Male Pedigree Respiratory System Abnormalities Seizures/congenital Thumb/abnormalities Trisomy
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Lange M
Alfi O S
Article Info
Journal
Annales de genetique
Abbr.
Ann Genet
ISSN
0003-3995
Published
1976-03-00
Pages
17-21
Language
English
Region
Netherlands
NLM ID
0370562
Subset
IM
External Links
PubMed source
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