Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature.

ABSTRACT:

Background

There are only ten reported cases of interstitial deletions involving cytogenetic bands 10q21.3q22.2 in the literature. Of the ten patients with overlapping 10q21.3q22.2 interstitial deletions, only nine have been characterized by chromosomal microarray analysis. Here, we report a two-and-a-half-year-old patient with a de novo 10.2-Mb deletion that extends from 10q21.3 to 10q22.3 and contains 92 protein coding genes.

Case presentation

The patient is the product of a 37-week dizygotic twin pregnancy and presented with global developmental delay, hypotonia, feeding difficulties, short stature, poor weight gain, scaphocephaly, retrognathia, hypoplasia of the optic nerves/chiasms, a distinctive facial gestalt, as well as additional minor dysmorphic features. The delet

SUBMITTER: Herriges JC 

PROVIDER: S-EPMC6525357 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature