A Case Report With A Rare 8p Duplication


Yeşil G. , Sayar C., Toksoy G. , Türköver B. B. , Duman N., Demir Ü., ...Daha Fazla

9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Türkiye, 1 - 05 December 2010, cilt.78, no.1, ss.37

  • Cilt numarası: 78
  • Basıldığı Şehir: İstanbul
  • Basıldığı Ülke: Türkiye
  • Sayfa Sayıları: ss.37

Özet

Duplications can occur by unequal crossing over or by abnormal
segregation in meiosis in a translocation or an inversion
carrier. In general duplications appear to be much less harmful
than deletions. A 7-year-old patient who was born to nonconsanguines
parents; was referred to us from pediatric neurology
unit due to developmental delay and dysmorphism. The
pregnancy was complicated with gestational diabetes and polyhydramniosis.
The physical examination revealed no growth
delay but hypertonicity on lower extremities and dysmorphism.
The X-ray’s showed spina bifida. The congenital
absence of gallbladder was detected by ultrasound. The
Giemsa stained karyotyping by high resolution banding technique
and also FISH analysis showed 46,XY,der(8)ish
dup(8)(p21-?)(wcp8+) chromosome constitution de novo. In
this report we discussed the similarity and differences of the
phenotypes between the present and previously reported
patients with dup (8).