The phenotypic spectrum of trisomy 2: report of two new cases

Mihci E., VELAGALETI G. V. N., ENSENAUER R., BABOVIC-VUKSANOVIC D.

CLINICAL DYSMORPHOLOGY, cilt.18, sa.4, ss.201-204, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Sayı: 4
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1097/mcd.0b013e32832d0639
  • Dergi Adı: CLINICAL DYSMORPHOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.201-204
  • Anahtar Kelimeler: acardiac and acranial fetus, mosaicism, trisomy 2, CONFINED PLACENTAL MOSAICISM, INTRAUTERINE GROWTH-RETARDATION, MATERNAL UNIPARENTAL DISOMY, ACARDIAC TWIN, PREGNANCY, ABNORMALITIES, CHROMOSOME-2, FETUS
  • Akdeniz Üniversitesi Adresli: Evet

Özet

We describe two cases of trisomy 2. The first case is a child with mosaic trisomy 2 who presented with mental retardation, multiple congenital anomalies, and dysmorphic findings similar to Pallister-Killian syndrome. The second case was an acardiac and acranial fetus with complete trisomy 2. We review the phenotypic spectrum associated with trisomy 2. Clin Dysmorphol 18:201-204 (C) 2009 Wolters Kluwer Health | Lippincott Williams & Wilkins.