18q22.3q23 deletion

What is 18q22.3q23 deletion?

18q22.3q23 deletion is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Thassano et al. (2016) reported on a 16-month-old male infant with fever attacks (apparently unrelated to any infectious or inflammatory symptoms), dysmorphism, growth retardation, bilateral vertical talus, congenital aural atresia, hearing impairment and mild psychomotor delay. Dysmorphic features included epicanthal folds, smooth philtrum, thin upper lip, low-set ears, frontal bossing, sparse light hair and carp-shaped mouth. Brain MRI showed diffuse white matter signal hyperintensity on T2-weighted images. Array CGH revealed an interstitial deletion on 18q22.3q23 spanning about 2.5 Mb (chr18: 72,887,342-75,418,267; GRCh37/hg19) involving five genes: TSHZ1, ZNF516, ZNF236, MBP and GALR1.

* This information is courtesy of the L M D.

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What gene changes cause 18q22.3q23 deletion?

The syndrome is inherited in the following inheritance pattern/s:


In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

The syndrome can be caused by mutations in the following gene/s location/s:

What are the main symptoms of 18q22.3q23 deletion?

The typical symptoms of the syndrome are:

How does someone get tested for 18q22.3q23 deletion?

The initial testing for 18q22.3q23 deletion can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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