Familial Non-Syndromic Oligodontia Attributable to Pericentric Inversion of Ninth Chromosome

Familial pericentric inversion of chromosome 11 detected prenatally.

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 ...

Non Syndromic Oligodontia: Case Report

Oligodontia is a rare genetic disorder which represents the congenital absence of more than six teeth in primary, permanent or both dentitions. It is usually a part of a syndrome and seldom occurs as an isolated entity. Genes responsible for non syndromic oligodontia are found to be MSX1 and PAX9 genes. In this case report a 13 year old boy is presented who had absence of all four second perman...

Multidisciplinary treatment of non-syndromic oligodontia

Oligodontia is the agenesis of 6 or more teeth, excluding third molars. The etiology of congenital absence of teeth is believed to be rooted in heredity or developmental anomalies. The absence of teeth in patients can cause aesthetic, functional, and psychological problems, particularly if the anterior region is involved. This case report describes the multidisciplinary treatment approach towar...

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...