Dicentric X-isochromosome (Xqi Dic) and Pericentric Inversion of No. 2 [inv(2) (p15 Q21)] in a Patient with Gonadal Dysgenesis

Overview

Journal Clin Genet

Specialty Genetics

Date 1975 Jul 1

PMID 1149316

Citations 18

Authors

M M COHEN

A Rosenmann

S Dahan

Affiliations

Soon will be listed here.

Abstract

A patient with the clinical stigmata of gonadal dysgenesis is presented. Cytogenetic investigations revealed two distinct structural chromosome rearrangements. One of these, an isochromosome for the long arm of the X, proved to be a dicentric element following C-banding. The second abnormality, an inherited familial marker, was a pericentric inversion of No. 2 [(inv 2) (p15q21)].

Citing Articles

Characterization of chromatin at structurally abnormal inactive X chromosomes reveals potential evidence of a rare hybrid active and inactive isodicentric X chromosome.

Chadwick B Chromosome Res. 2019; 28(2):155-169.

PMID: 31776830 PMC: 7245565. DOI: 10.1007/s10577-019-09621-1.

The role of dicentric chromosome formation and secondary centromere deletion in the evolution of myeloid malignancy.

MacKinnon R, Campbell L Genet Res Int. 2012; 2011:643628.

PMID: 22567363 PMC: 3335544. DOI: 10.4061/2011/643628.

Cytogenetic investigation of six patients with X isochromosomes, i(Xq), and of two subjects with isodicentric X chromosomes, idic (Xq).

Gaal M, Laszlo J, Bosze P Hum Genet. 1981; 58(4):362-5.

PMID: 7327558 DOI: 10.1007/BF00282816.

Structural anomalies of the X chromosome and inactivation center.

Mattei M, Mattei J, Vidal I, Giraud F Hum Genet. 1981; 56(3):401-8.

PMID: 7239523 DOI: 10.1007/BF00274702.

Structural differences in pericentric inversions. Application to a model of risk of recombinants.

Daniel A Hum Genet. 1981; 56(3):321-8.

PMID: 7239515 DOI: 10.1007/BF00274687.