Pericentric inversion inv(3)(p11q21).

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 ...

Prenatal Diagnosis in Pericentric Inversion 6

A four-year-old girl, the proband along with her mother in her subsequent pregnancy was referred to the genetic clinic for evaluation of global developmental delay with a normal karyotype study. On evaluation, dysmorphic features prompted to repeat the karyotype assessment. An unbalanced pericentric inversion of chromosome 6 in the index child was noticed. This was followed by identification of...

Trisomy 10p syndrome owing to maternal pericentric inversion.

A female infant with karyotype 46,XX,rec(10),dup p inv(10)(p11.2q25.2)mat is presented. She had both duplication of 10p and deletion of distal 10q, but only had the constellation of specific features characteristic of duplication of 10p.

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

Constitutional pericentric inversion of chromosome 9 and chronic myeloid leukemia

In the present study, we screened the bone marrow chromosome database entries between March, 2004 and December, 2013 to identify cases with inv(9) along with t(9;22) variations. Our study recorded 2300 cases of confirmed CML (Ph positive), of which only 12 (0.52%) cases had inv(9) and t(9;22). The association between inv(9) and t(9;22) is not fully explored. Therefore more number of cases is re...