شماره ركورد :
19417
عنوان به زبان ديگر :
Goldenhar Syndrome and Pericentric Inversion of Chromosome 9
پديد آورندگان :
ASHRAFZADEH F. نويسنده , FARAJI M. نويسنده
از صفحه :
118
تا صفحه :
120
تعداد صفحه :
3
چكيده لاتين :
Oculo-auriculovertebral dysplasia (Goldenhar) is a congenital syndrome. Its phenotype differs from craniofacial anomalies to cardiac, vertebral or central nervous system defects. This syndrome is rare and its etiology is not apparent yet. Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations with its incidences 15% to 25%. Herein we present a case of Goldenhar syndrome in a oneyr- old girl with pericentric inversion of chromosome 9. We used the patientיs peripheral blood and studied 30 metaphase spreads on the basis of G-bands by trypsin using Giernsa (GTG) technique at 400 band resolution that revealed a pericentric inversion of chromosome 9 with break points at p1I and q13
شماره مدرك :
1203417
لينک به اين مدرک :
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