Partial trisomy of 15q due to inserted inverted duplication

Elcioglu N., Fear C., Berry A.

CLINICAL GENETICS, cilt.52, sa.6, ss.442-445, 1997 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 52 Sayı: 6
  • Basım Tarihi: 1997
  • Doi Numarası: 10.1111/j.1399-0004.1997.tb02566.x
  • Dergi Adı: CLINICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.442-445
  • Anahtar Kelimeler: dysmorphism, inv dup(15) chromosome, speech delay
  • Marmara Üniversitesi Adresli: Hayır

Özet

A de novo abnormal chromosome 15, with an inverted duplication of the segment (15q13.3-->15q21.3) at 15q24.3, was found in a boy with mild developmental delay, facial dysmorphism, Marfan-like appearance and severe language delay. There is an unusual disparity between the severe lack of speech and the presence of reasonable skills in other areas.