Herein, we report a six-year-old male who presented with developmental delay and short stature with a terminal deletion
To identify the 5' NCR terminal deletion
, we performed a rapid amplification of cDNA ends (RACE) PCR followed by an in-house NGS strategy.
It is well known that, the DNA sequencing essentially required Taq DNA polymerase and enzymes with N- terminal deletion
An epileptic case with mosaic ring chromosome 6 and 6q terminal deletion
. Epilepsy Research 2008; 80: 219-223.
Nancy Jameson is one of around 200 people worldwide to have the chromosome abnormality 11Q Terminal Deletion
Disorder - also known as Jacobsen Syndrome.
Monosomy of lp36 (terminal deletion
of chromosome 1) is an established cause of mental retardation and major congenital malformations in children, with an incidence of 1-2 children per 10,000 (Shaffer and Heilstedt 2001; Zenker et al.
The "p" arm had a 6.7Mb terminal deletion
encompassing the interval 199,112bp-6,926,078bp at chromosome regions 9p24.3 to 9p24.1.
One possible explanation is that a terminal deletion
in a chromosome may change the chromatin structure of the remaining arm, thereby changing its gene expression.
of chromosome 5p in a patient with phenotypical features of LujanFryns syndrome.
Due to its role as a nuclear receptor coregulator and the role it plays in retinoic acid signaling, it is considered a candidate gene, which could contribute to the development of several phenotypes seen in individuals with proximal interstitial deletions or large terminal deletions
of 1p36 .
Cytogenetic evaluation of lung tumor tissue showed 19q and 22q terminal deletions
. Cytogenetic analysis of previous leiomyoma was not performed due to insufficient pathological material.
Another mechanism for the formation of inverted duplications associated with terminal deletions
is a U-type exchange followed by telomere capture.