20q11.2 Microdeletion syndrome

What is 20q11.2 Microdeletion syndrome?

20q11.2 Microdeletion syndrome is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Jedraszak et al. (2015) reported on six patients with 20q11.2 Microdeletion syndrome. Common facial features included broad and high forehead with frontal bossing, deep-set eyes, midface hypoplasia and ear anomalies. Hand anomalies included 2nd, 3rd and 5th fingers brachydactyly, camptodactyly and clinodactyly. One patient had right pre-axial polydactyly and long fingers. Bilateral talus valgus and hallux adductus were also present. The authors reviewed previously published cases and concluded that the main clinical features of this syndrome include limb abnormalities, feeding difficulties, psychomotor delay and recognizable craniofacial dysmorphism (high forehead, enophthalmos, abnormal ears, short philtrum and microretrognathia). In the oldest patients the chin became more prominent and midface hypoplasia became more apparent. Patients also occasionally showed abnormal growth and behaviour, hearing impairment, and anomalies of heart, eye and brain.
A minimal critical region of 1.62 Mb encompassing three genes of interest (GDF5, EPB41L1, SAMHD1) was defined. Haploinsufficiency of GDF5 was demonstrated to be the cause of C brachydactyly.

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* This information is courtesy of the L M D.

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What gene changes cause 20q11.2 Microdeletion syndrome?

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

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.

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 20q11.2 Microdeletion syndrome?

The typical symptoms of the syndrome are:

How does someone get tested for 20q11.2 Microdeletion syndrome?

The initial testing for 20q11.2 Microdeletion syndrome 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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