Paula and Bobby
Parents of Lillie
Chromosome 7q11.22 - Microdeletion
What is Chromosome 7q11.22 - Microdeletion?
Chromosome 7q11.22 - Microdeletion is a rare disease. It is also known as Intellectual disability - AUTS2 mutation.
There have been a number of cases, summarised by Beunders et al., (2013) of intellectual disability, autistic features and microdeletions of 7q11.22 especially involving C terminus. Two patients with duplications and 2 with deletions were reported by Nagamani et al., (2013). The 2 with duplications showed the autistic spectrum disorder and were sibs. One had radio-ulnar synostosis
Jolley et al., (2013) reported a case. He had autistic tendencies, a triangular face, short stature, crowded teeth, bilateral cowlicks and broad forehead. The patient reported by Amarillo et al., (2014), was delayed, had tonic-clonic seizues and had severe constipation and drooling. There were no facial dysmorphic features. This was one of the smallest deletions to date - it involved AUTS2. Two unrelated adult males were reported byBeunders et al., (2015). They were not strikingly dysmorphic but were similar to each other especially around the eyes (ptosis, short palpebral fissures, arched eyebrows). The nasal tip was prominent and the base was broad. The case reported by Liu et al., (2015) showed only autistic feature, intellectual disability and stereotypical movements
Three Chunese patients were reported by Fan et al., (2016). Facially, they had highly arched eyebrows, everted upper and lower lips, telecanthus, epicanthus, thick alae nasi.
* This information is courtesy of the L M D.
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What gene changes cause Chromosome 7q11.22 - Microdeletion?
The syndrome is inherited in the following inheritance pattern/s:
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 Chromosome 7q11.22 - Microdeletion?
The typical symptoms of the syndrome are:
How does someone get tested for Chromosome 7q11.22 - Microdeletion?
The initial testing for Chromosome 7q11.22 - Microdeletion 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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