Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion.
We report an 18-month-old girl with Alagille syndrome, caused by a submicroscopic deletion of chromosome 20p, including the Jagged1 (JAG1) gene. FISH using a BAC probe containing JAG1 identified the deletion. Chromosomes were normal at the 550 band level. The deletion was inherited from her phenotypically normal mother who was found to have the deletion in 9/20 cells studied from peripheral blood. This is the first report of a JAG1 deletion inherited from an apparently unaffected mosaic parent.
Laufer-Cahana
Ayala
A
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Krantz
Ian D
ID
Bason
Lynn D
LD
Lu
Feng-Min
FM
Piccoli
David A
DA
Spinner
Nancy B
NB
D016738:Alagille Syndrome / Q000235:genetics*; D002135:Calcium-Binding Proteins; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D036341:Intercellular Signaling Peptides and Proteins; D000072100:Jagged-1 Protein; D008565:Membrane Proteins; D009030:Mosaicism / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion; D000072099:Serrate-Jagged Proteins
D002135:Calcium-Binding Proteins; D036341:Intercellular Signaling Peptides and Proteins; C000606273:JAG1 protein, human; D000072100:Jagged-1 Protein; D008565:Membrane Proteins; D011506:Proteins; D000072099:Serrate-Jagged Proteins