title: Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart.
abstract: We report a male patient born at 37-weeks gestation, weighing 1.885 kg (<0.4th centile). Shortly after birth, he was diagnosed with hypoplastic left heart syndrome for which he underwent a Norwood procedure. Subsequently, he developed problems with failure to thrive and developmental delay. At the age of 4 years his delay in growth and development led to further investigations, which revealed a small de-novo interstitial deletion of chromosome 20p12.2. JAGGED1 haploinsufficiency was confirmed by fluorescence in situ hybridization. Array-comparative genomic hybridization analysis confirmed and quantified an approximate 5.4 Mb interstitial deletion involving the chromosomal region 20p12.2-p12.3. This precise interstitial deletion has not been previously reported. Further clinical evaluation revealed posterior embryotoxon and butterfly vertebrae. He has normal liver function tests, facial features consistent with Alagille syndrome, and mild learning difficulties. To our knowledge this is the first report of Alagille syndrome associated with hypoplastic left heart syndrome.
authors.affiliation: Peninsula Clinical Genetics Service, Exeter, UK. leemarobert@hotmail.com
authors.forename: Marie Leema P
authors.initials: ML
authors.lastname: Robert
authors.forename: Tony
authors.initials: T
authors.lastname: Lopez
authors.forename: John
authors.initials: J
authors.lastname: Crolla
authors.forename: Shuwen
authors.initials: S
authors.lastname: Huang
authors.forename: Carol
authors.initials: C
authors.lastname: Owen
authors.forename: Lisa
authors.initials: L
authors.lastname: Burvill-Holmes
authors.forename: Oliver
authors.initials: O
authors.lastname: Stumper
authors.forename: Peter D
authors.initials: PD
authors.lastname: Turnpenny
mesh_terms: D016738:Alagille Syndrome / Q000150:complications* / Q000235:genetics*; D002135:Calcium-Binding Proteins / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D007223:Infant; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D000072100:Jagged-1 Protein; D007621:Karyotyping; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D000072099:Serrate-Jagged Proteins