title: Silver-Russell syndrome in Hong Kong.
abstract: OBJECTIVE
  To examine the molecular pathogenetic mechanisms, (epi)genotype-phenotype correlation, and the performance of the three clinical scoring systems-namely Netchine et al, Bartholdi et al, and Birmingham scores-for patients with Silver-Russell syndrome in Hong Kong.
  
  
  METHODS
  This retrospective case series was conducted at two tertiary genetic clinics, the Clinical Genetic Service, Department of Health, and clinical genetic clinic in Queen Mary Hospital in Hong Kong. All records of patients with suspected Silver-Russell syndrome under the care of the two genetic clinics between January 2010 and September 2015 were retrieved from the computer database.
  
  
  RESULTS
  Of the 28 live-birth patients with Silver-Russell syndrome, 35.7% had H19 loss of DNA methylation, 21.4% had maternal uniparental disomy of chromosome 7, 3.6% had mosaic maternal uniparental disomy of chromosome 11, and the remaining 39.3% were Silver-Russell syndrome of unexplained molecular origin. No significant correlation between (epi)genotype and phenotype could be identified between H19 loss of DNA methylation and maternal uniparental disomy of chromosome 7. Comparison of molecularly confirmed patients and patients with Silver-Russell syndrome of unexplained origin revealed that postnatal microcephaly and café-au-lait spots were more common in the latter group, and body and limb asymmetry was more common in the former group. Performance analysis showed the Netchine et al and Birmingham scoring systems had similar sensitivity in identifying Hong Kong Chinese subjects with Silver-Russell syndrome.
  
  
  CONCLUSIONS
  This is the first territory-wide study of Silver-Russell syndrome in Hong Kong. The clinical features and the spectrum of underlying epigenetic defects were comparable to those reported in western populations.
authors.affiliation: Clinical Genetic Service, Department of Health, 3/F, Cheung Sha Wan Jockey Club Clinic, 2 Kwong Lee Road, Sham Shui Po, Hong Kong.
authors.forename: H M
authors.initials: HM
authors.lastname: Luk
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Pokfulam, Hong Kong.
authors.forename: K S
authors.initials: KS
authors.lastname: Yeung
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Pokfulam, Hong Kong.
authors.forename: W L
authors.initials: WL
authors.lastname: Wong
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Pokfulam, Hong Kong.
authors.forename: B Hy
authors.initials: BH
authors.lastname: Chung
authors.affiliation: Clinical Genetic Service, Department of Health, 3/F, Cheung Sha Wan Jockey Club Clinic, 2 Kwong Lee Road, Sham Shui Po, Hong Kong.
authors.forename: T Mf
authors.initials: TM
authors.lastname: Tong
authors.affiliation: Clinical Genetic Service, Department of Health, 3/F, Cheung Sha Wan Jockey Club Clinic, 2 Kwong Lee Road, Sham Shui Po, Hong Kong.
authors.forename: I Fm
authors.initials: IF
authors.lastname: Lo
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D019080:Cafe-au-Lait Spots / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D019175:DNA Methylation / Q000235:genetics*; D044127:Epigenesis, Genetic; D005260:Female; D005838:Genotype; D006723:Hong Kong / Q000453:epidemiology; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000453:epidemiology; D010641:Phenotype; D012189:Retrospective Studies; D056730:Silver-Russell Syndrome / Q000453:epidemiology* / Q000235:genetics*; D024182:Uniparental Disomy / Q000235:genetics*; D055815:Young Adult
keywords: Child; Dwarfism