7p22.1 microduplication syndrome

What is 7p22.1 microduplication syndrome?

7p22.1 microduplication syndrome is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

A patient (Chui et al., 2011), with a microduplication of 7p22.1, had speech delay and some facial dysmorphism (frontal bossing, hypertelorism, lowset, posteriorly rotated ears, a flat, broad nasal bridge and a unilateral preauricular pit). The thumbs were broad and the teeth "pegged". A second patient was reported by Preiksaitiene et al., (2012).
Ronzoni et al. (2016), described a patient with 7p22.1 microduplication syndrome carrying the smallest region described and including only two genes (ACTB1 and RNF216). The authors reviewed six previously described cases. The deletion size varied from 0.386 Mb to 2.4Mb. In three cases, the deletion was de novo; in one inherited from the mother, for the other patients parental studies have not been performed. Macrocephaly was reported in five patients. Dysmorphic features included frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, and micro-retrognathia. Motor delay was described in five and speech delay in six individuals. Renal anomalies were present in two patients and included renal asymmetry, dysplasia, microcysts,vesicoureteral reflux and hydronephrosis. Cryptorchidism was present in all male patients. Congenital heart anomalies were present in five patients, including patent foramen ovale, atrial septal defect, pulmonary hypertension, patent ductus arteriosus, tricuspid regurgitation or insufficiency, and vegetodystonia.

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* This information is courtesy of the L M D.

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What gene changes cause 7p22.1 microduplication syndrome?

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

Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

Microdeletion - Microdeletion inheritance occurs when there is a deletion of several genes on a chromosome. The specific chromosome on which the deletions occur will determine the syndrome they cause.

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 7p22.1 microduplication syndrome?

The typical symptoms of the syndrome are:

How does someone get tested for 7p22.1 microduplication syndrome?

The initial testing for 7p22.1 microduplication 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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