Alagille syndrome and deletion of 20p.
We add five cases of 20p deletion to the 10 cases already published. Four had craniofacial, vertebral, ocular, and cardiovascular features of Alagille syndrome, which adds weight to the assignment of this disorder to the short arm of chromosome 20. Included in our series is the first report of familial transmission of a 20p deletion.
Anad
F
F
Division of Human Genetics, University of Newcastle upon Tyne.
Burn
J
J
Matthews
D
D
Cross
I
I
Davison
B C
BC
Mueller
R
R
Sands
M
M
Lillington
D M
DM
Eastham
E
E
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D002675:Child, Preschool; D002779:Cholestasis / Q000235:genetics; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20; D005124:Eye Abnormalities / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities; D008297:Male; D012886:Skull / Q000002:abnormalities; D013577:Syndrome