goldenhar syndrome and pericentric inversion of chromosome 9

نویسندگان

f. ashrafzadeh

m. faraji

چکیده

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 one-yr-old girl with pericentric inversion of chromosome 9. we used the patient’s peripheral blood and studied 30 metaphase spreads on the basis of g-bands by trypsin using giemsa (gtg) technique at 400 band resolution that revealed a pericentric inversion of chromosome 9 with break points at p11 and q13. iran j med sci 2006; 31(2): 118-120.   keywords ● goldenhar syndrome ● chromosome 9 ● pericentric inversion

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Goldenhar Syndrome and Pericentric Inversion of Chromosome 9

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 ...

متن کامل

Goldenhar Syndrome and Pericentric Inversion of Chromosome 9

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 ...

متن کامل

Constitutional pericentric inversion of chromosome 9 and chronic myeloid leukemia

In the present study, we screened the bone marrow chromosome database entries between March, 2004 and December, 2013 to identify cases with inv(9) along with t(9;22) variations. Our study recorded 2300 cases of confirmed CML (Ph positive), of which only 12 (0.52%) cases had inv(9) and t(9;22). The association between inv(9) and t(9;22) is not fully explored. Therefore more number of cases is re...

متن کامل

De Novo Pericentric Inversion of Chromosome 9 in Congenital Anomaly

PURPOSE The pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal variations and has been found in both normal populations and patients with various abnormal phenotypes and diseases. The aim of this study was to re-evaluate the clinical impact of inv(9)(p11q13). MATERIALS AND METHODS We studied the karyotypes of 431 neonates with congenital anomalies ...

متن کامل

Rieger's syndrome with pericentric inversion of chromosome 6.

Pericentric inversion of chromosome 6 (6p+q-) was found in a girl with Rieger's syndrome and in her father. The only ocular signs in the father were prominent iris mounds and Schwalbe's line. The association of chromosomal anomalies with Rieger's syndrome indicates the need for a chromosome banding test in familial or sporadic patients with the syndrome and in patients with mild anomalies of th...

متن کامل

Impact of pericentric inversion of Chromosome 9 [inv (9) (p11q12)] on infertility

BACKGROUND One of the frequent occurrences in chromosome rearrangements is pericentric inversion of the Chromosome 9; inv (9) (p11q12), which is consider to be the variant of normal karyotype. Although it seems not to correlate with abnormal phenotypes, there have been many controversial reports indicating that it may lead to abnormal clinical conditions such as infertility. The incidence is fo...

متن کامل

منابع من

با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید


عنوان ژورنال:
iranian journal of medical sciences

جلد ۳۱، شماره ۲، صفحات ۰-۰

کلمات کلیدی

میزبانی شده توسط پلتفرم ابری doprax.com

copyright © 2015-2023