Goldenhar Syndrome and Pericentric Inversion of Chromosome 9

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 ...

Normal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9.

A female infant with trisomy 9 in 58% of her cells is reported. Multiple congenital malformations were present, but she had normal psychomotor development. A pericentric inversion involving a portion of the centromeric heterochromatin of chromosome 9 was identified in the patient and her mother. This variant chromosome 9 was present in duplicate in the trisomic line. Since similar variants of 9...

Twin Pregnancy Obtention of Patient with Nonmosaic Klinefelter’s Syndrome and His Wife with Chromosome 9 Inversion by ICSI Treatment

Partial deletion of the long arm of chromosome 4: a clinical syndrome.

1 Howard-Peebles PN, Stoddard GR. Pericentric inversions of chromosome number 9: benign or harmful. Hum Hered 1979;29:111-7. 2 Leonard C, Hazael-Massieux P, Bocquet L, Larget-Piet L, Boue J. Inversion pericentrique inv(2)(pl1ql3) dans les familles non apparent6es. Hum Genet 1975 ;48 :121-8. 3 van der Linden AGJM, Pearson PL, van de Kamp JJP. Cytological assessment of meiotic exchange in a human...

Inherited pericentric inversion of a human Y chromosome in trisomic Down's syndrome.

Chromosomal inversions appear to be common in many organisms, but their frequency in humans is not known. Routine human mitotic chromosome studies have shown few pericentric inversions, and meiotic studies, which can reveal pericentric and paracentric inversions, have been less extensively applied to human chromosomes. The evaluation of possible chromosomal inversions has also been limited by n...