A Case With Duplication 2q


Toksoy G. , Türköver B. B. , Laleli Şahin E., Yeşil G. , Sayar C., Duman N., ...Daha Fazla

. 9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Türkiye, 1 - 05 Aralık 2010, cilt.78, sa.1, ss.37

  • Yayın Türü: Bildiri / Özet Bildiri
  • Cilt numarası: 78
  • Basıldığı Şehir: İstanbul
  • Basıldığı Ülke: Türkiye
  • Sayfa Sayıları: ss.37

Özet

We report here a 5-year-old boy who referred to us from pediatric
neurology clinic due to developmental delay and mild
retardation. . The physical examination revealed dysmorphic
findings like; small dysplastic teeth, low set ears with big pinnae,
straight and long philtrum, distal phalanx hypoplasia,
webbing between phalanges and dry skin with cutis marmoratus.
The cranial MRI revealed; unilateral enlargement of lateral
ventricle. The Giemsa stained karyotyping by high
resolution banding technique and also FISH analysis showed
46,XY,add(2)(q35)ish dup(2)(q35-q36?)(wcp2+) chromosome
constitution de novo. 44K array by CytoSure Analysis was
performed for further investigation of the breakpoints. A
15.566 Mb long gain between 2q33.3 and 2q36.1 were
detected. The genotype phenotype correlations will be discussed
in this report.