A case of Alagille's syndrome with translocation (4;14) (q21;q21).
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.
Laboratoire de Génétique, CHU Nancy Vandceuvre-Les-Nancy, France.
P
P
Mujica
A
A
Morali
M
M
Vidailhet
M
M
Pierson
S
S
Gilgenkrantz
D001653:Bile Ducts, Intrahepatic / Q000002:abnormalities; D002883:Chromosomes, Human, Pair 14; D002894:Chromosomes, Human, Pair 4; D004431:Ear, External / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014178:Translocation, Genetic