A case of Alagille's syndrome with translocation (4;14) (q21;q21).

Annales de genetique ·Vol. 32 ·No. 2 ·1989-00-00 ·Pages 117-9

Mujica P, Morali A, Vidailhet M, Pierson M, Gilgenkrantz S

Abstract

This paper reports a case of Alagille's syndrome, in association with a translocation 46,XY,t(4;14)(q21;21). The possible relationship between this autosomal dominant syndrome and the apparently balanced chromosomal rearrangement is discussed.

MeSH Terms

Bile Ducts, Intrahepatic/abnormalities Chromosomes, Human, Pair 14 Chromosomes, Human, Pair 4 Ear, External/abnormalities Facial Bones/abnormalities Humans Infant, Newborn Karyotyping Male Skull/abnormalities Syndrome Translocation, Genetic

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Mujica P

Laboratoire de Génétique, CHU Nancy Vandceuvre-Les-Nancy, France.

Morali A

Vidailhet M

Pierson M

Gilgenkrantz S

Article Info

Journal

Annales de genetique

Abbr.

Ann Genet

ISSN

0003-3995

Published

1989-00-00

Pages

117-9

Language

English

Region

Netherlands

NLM ID

0370562

Subset

External Links

PubMed source

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A case of Alagille's syndrome with translocation (4;14) (q21;q21).

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