Pericentric inversion of chromosome 13.

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

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 ...

Familial pericentric inversion of chromosome 13 resulting in duplication 13q22 to qter.

2 Turleau C, de Grouchy J, Chavin-Colin F, Roubin M. Trisomie 15q distale. Ann Genet (Paris) 1977;20:214-6. 3 Zabel B, Baumann W. Trisomie partielle pour la partie distale du bras long du chromosome 15 par translocation X/15 maternelle. Ann Genet (Paris) 1977;20:285-9. 4 Tzancheva M, Krachounova M, Damjanova Z. Two familial cases with trisomy 15q dist due to a rcp(5;15) (pl4;q21). Hum Genet 198...

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 ...

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.