The proband carries a chromosomal inversion in chromosome 6.Representative G banded chromosomes from the proband. Enlarged chromosome 6 is shown at the left. The karyotype represents a p21.3 in chromosome 6 invasion with p23 <46, XX, inv (6) (p21.3p23)>. An ideogram of chromosome 6 is shown. The breakpoints are indicated in the ideogram.

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Echocardiogram examinations of the proband at different time points....

The proband carries a chromosomal inversion in chromosome...

Blood examination of members in the pedigree detecting hemochromatosis.

Echocardiogram examination of the members in the pedigree.

A Chromosomal Inversion of 46XX, inv (6) (p21.3p23) Connects to Congenital Heart Defects

Article

Full-text available

Jul 2020

Liangping Cheng
Yanlai Tang
Yuese Lin
[...]
Zhan-Peng Huang

Congenital heart defects (CHDs) represent the most common human birth defects. Ventricular septal defect (VSD) is the most common subtype of CHDs. It has been shown that about 20–40% of VSDs are closely related to chromosomal aneuploidies or Mendelian diseases. In this study, we report a pedigree with VSD associated with a balanced paracentric inve...