Microcephaly and Blepharophimosis in a girl with 46,XX,ins(6;3)(q23;q27q21)

Toksoy G., Yeşil Sayın G., Sayar C.

European Human Genetics Conference 2012, Nuremberg, Almanya, 23 - 26 Haziran 2012, cilt.20, sa.1, ss.121

  • Yayın Türü: Bildiri / Özet Bildiri
  • Cilt numarası: 20
  • Basıldığı Şehir: Nuremberg
  • Basıldığı Ülke: Almanya
  • Sayfa Sayıları: ss.121
  • İstanbul Üniversitesi Adresli: Evet

Özet

This clinical report describes a one year old girl with severe microcephaly,

moderate developmental delay and blepharo􀏐imosis. She had no internal

organ malformations and structural brain abnormalities. Frequent upper

respiratory infections were noted. The chromosome analysis revealed

46,XX,ins(6;3)(q23;q27q21) de novo. 44k array was also performed and

showed no abnormalities.

The Blepharophimosis phenotype is known to be associated with the FOXL2

gene which is located at 3q22.3. The ATR gene that is responsible for the

Seckel Syndrome phenotype is located at 3q23. We are awaiting targeted

array analysis results, which will show us the etiology of overlapping microcephaly

and blepharophimosis phenotypes.