Alihossein Saberi
Ahvaz Jundishapour University of Medical sciences, Iran
Title: Prenatal diagnosis of a rare de novo 1q22-q25.1 chromosomal deletion syndrome using oligo array CGH
Biography
Biography: Alihossein Saberi
Abstract
A 26 year old pregnant woman referred for genetic counseling and prenatal diagnosis at 12 weeks gestation. Routine first trimester screening including maternal serum testing and ultrasound examination of Nuchal Translucency (NT) showed a low risk for chromosomal aneuploidy. Follow up ultrasound detected oligohydramnios at 20 weeks gestation. Amniosynthesis was performed for rapid detection and avoid of long term culture, DNA extracted from amniocytes and subjected to CGH array. Whole-genome CGH array analysis on the DNA extracted from amniocytes detected a 17 Mb deletion at 1q22-q25.1. The BlueGnome CytoChip ISCA 4×44K oligonucleotide array indicated breakpoints at base pair 154559773-171559773. This deleted region overlapped 235 RefSeq genes including 138 OMIM genes. After genetic counseling, the mother decided to continue the pregnancy and follow up ultrasound monitoring found cleft lip/palate. A female fetus was delivered at 37 weeks’ gestation by cesarean. She was diagnosed with bilateral cleft lip and palate, a transverse palmar crease in right hand, short neck, normal head circumference, broad nasal bridge, poorly shaped and low set ears, a birth weight of 1800 g, small hands and feet, hypotonia and a hemangioma on the back of the head. After birth, again array CGH was carried out using DNA extracted from peripheral blood. It revealed the same microdeletion on 1q22-q25.1 and confirmed our prenatal array CGH results