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 کاملA Dysmorphic Child with a Pericentric Inversion of Chromosome 8
An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of generalized seizure disorder. Cytogenetic evaluation of the proband revealed a pericentric inversio...
متن کاملGenomic characterization of chromosome 8 pericentric trisomy
We present a patient with trisomy 8p11.21q11.21 associated with language, gross motor, fine motor, and cognitive delay. Furthermore, using array-based comparative genomic hybridization, we identify the specific genes duplicated in our patient.
متن کاملgoldenhar 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 کاملHigh resolution of a small pericentric inversion of chromosome 11.
A pericentric inversion 11 (p11q13.3) segragating in two generations is described. A high degree of resolution of the inversion was achieved by using prophase and prometaphase chromosomes from methotrexate-synchronised cells. The inversion occurred in a mother and three of her ten children. It had no detectable clinical consequences.
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ژورنال
عنوان ژورنال: The Tohoku Journal of Experimental Medicine
سال: 1976
ISSN: 0040-8727,1349-3329
DOI: 10.1620/tjem.119.65