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PMID: 238457 Published · ppublish fre Case Reports English Abstract Journal Article

Partial 4q trisomy. Apropos of 3 cases.

La trisomie 4g partielle. A propos de trois observations

Annales de genetique ·Vol. 18 ·No. 1 ·1975-03-00 ·Pages 21-7

Dutrillaux B, Laurent C, Forabosco A, Noel B, Suerinc E, Biemont MC, Cotton JB

Abstract

Three observations of partial trisomy 4q are reported: the first due to a familial translocation the second to a de nove translocation, the third to a "mirror" duplication. The very characteristic phenotype is compared to that of 4 other patients already reported in the literature. The most evocatory symptoms include: absent or poorly indicated nose bridge; pursed lips; shortness of the philtrum; and constant existence of a fold on the antitragus continuing the anthelix reachinghe insertion of the pinna.

MeSH Terms

Abnormalities, Multiple/genetics Child Child, Preschool Chromosome Aberrations Chromosomes, Human, 4-5 Cryptorchidism/genetics Dermatoglyphics Ear/abnormalities Eyelids/abnormalities Female Growth Disorders/genetics Humans Infant Infant, Newborn Karyotyping Kidney/abnormalities Lip/abnormalities Male Microcephaly/genetics Micrognathism/genetics Nose Deformities, Acquired Translocation, Genetic Trisomy

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

Dutrillaux B

Laurent C

Forabosco A

Noel B

Suerinc E

Biemont M C

Cotton J B

Article Info

Journal

Annales de genetique

Abbr.

Ann Genet

ISSN

0003-3995

Published

1975-03-00

Pages

21-7

Language

fre

Region

Netherlands

NLM ID

0370562

Subset

External Links

PubMed source

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Partial 4q trisomy. Apropos of 3 cases.

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