A family with pericentric inversion of chromosome 12

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 ...

A 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...

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...

High 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.

Inherited pericentric inversion of a group D (13-15) chromosome.