An unusual case of monosomy 18p: minor malformations with speech delay

Bora E., Giray Ö., Ulgenalp A., ÖZKAN H., Ercal D.

TURKISH JOURNAL OF PEDIATRICS, cilt.47, sa.2, ss.199-201, 2005 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 47 Sayı: 2
  • Basım Tarihi: 2005
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.199-201
  • Anahtar Kelimeler: monosomy 18p, t(18 ; 21), FISH study, normal motor development
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

An unusual case of monosomy 18p with molecular cytogenetic characterization of 18;21 whole arm translocation who had mild speech delay and normal motor development is presented.