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

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

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

Ann Genet. 1989;32(2):117-9.

Authors

P Mujica¹, A Morali, M Vidailhet, M Pierson, S Gilgenkrantz

Affiliation

¹ Laboratoire de Génétique, CHU Nancy Vandceuvre-Les-Nancy, France.

PMID: 2757361

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.

Publication types

Case Reports

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*