Duplication 10q syndrome: A new case

KARAMAN A., Tos T.

Goztepe Tip Dergisi, cilt.28, sa.1, ss.55-57, 2013 (Scopus, TRDizin)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28 Sayı: 1
  • Basım Tarihi: 2013
  • Doi Numarası: 10.5222/j.goztepetrh.2013.055
  • Dergi Adı: Goztepe Tip Dergisi
  • Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.55-57
  • Anahtar Kelimeler: Characteristic dysmorphic fades, Developmental delay, Trisomy 10q
  • Sağlık Bilimleri Üniversitesi Adresli: Hayır

Özet

Partial trisomy of the long arm of chromosome 10 is a welldefined but rare syndrome. Growth retardation, developmental delay and characteristic dysmorphic features are well described in the syndrome. The case had the well characterized phenotype of microcephaly, characteristic dysmorphic fades and limb anomalies. Trisomy in the case involved the 10q25→qter region.