A Case Report With A Rare 8p Duplication

Abstract

Duplications can occur by unequal crossing over or by abnormalsegregation in meiosis in a translocation or an inversioncarrier. In general duplications appear to be much less harmfulthan deletions. A 7-year-old patient who was born to nonconsanguinesparents; was referred to us from pediatric neurologyunit due to developmental delay and dysmorphism. Thepregnancy was complicated with gestational diabetes and polyhydramniosis.The physical examination revealed no growthdelay but hypertonicity on lower extremities and dysmorphism.The X-ray’s showed spina bifida. The congenitalabsence of gallbladder was detected by ultrasound. TheGiemsa stained karyotyping by high resolution banding techniqueand also FISH analysis showed 46,XY,der(8)ishdup(8)(p21-?)(wcp8+) chromosome constitution de novo. Inthis report we discussed the similarity and differences of thephenotypes between the present and previously reportedpatients with dup (8).