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A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • Anna-Maja Molin
  • J Andrieux
  • D A Koolen
  • V Malan
  • M Carella
  • L Colleaux
  • V Cormier-Daire
  • A David
  • N de Leeuw
  • B Delobel
  • B Duban-Bedu
  • R Fischetto
  • F Flinter
  • S Kjaergaard
  • F Kok
  • A C Krepischi
  • C Le Caignec
  • C Mackie Ogilvie
  • S Maia
  • M Mathieu-Dramard
  • Og 15 flere
  • A Munnich
  • O Palumbo
  • F Papadia
  • R Pfundt
  • W Reardon
  • A Receveur
  • M Rio
  • L Ronsbro Darling
  • C Rosenberg
  • J Sá
  • L Vallee
  • C Vincent-Delorme
  • L Zelante
  • M-L Bondeson
  • G Annerén
Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and compared with 13 previously reported patients.
OriginalsprogEngelsk
TidsskriftJournal of Medical Genetics
Vol/bind49
Udgave nummer2
Sider (fra-til)104-9
Antal sider6
ISSN0022-2593
DOI
StatusUdgivet - 2012

ID: 48500317