Familial pericentric inversion of chromosome 13 resulting in duplication 13q22->qter

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...

Familial pericentric inversion of chromosome 11 detected prenatally.

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

Familial pericentric inversion (13) detected by antenatal diagnosis.

A recombinant rec (13), dup q chromosome was diagnosed in a 17-week fetus following amniocentesis. Subsequently, a familial pericentric inversion of chromosome 13 was seen to be segregating in the family and the same recombinant 13 was present in a mentally retarded aunt of the fetus. The clinical features of the carriers of the inversion product are discussed with reference to previous cases.

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 ...