Chromosome 7q21.11 - microdeletion

What is Chromosome 7q21.11 - microdeletion?

Chromosome 7q21.11 - microdeletion is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

An individual with a 7q21.11 deletion on one allele involving exon 1 of SEMA3A and a point mutation in SEMAA on the other allele was reported by Hofmann et al., (2013). He was short, intellectually delayed, had a barrel-shaped chest, minor facial dysmorphism, camptodactyly of his middle finger and platyspondyly in the upper thoracic region. His shoulders were sloping and anteverted.
Siddique et al., (2017) described a six years old male patient who presented with autistic behaviour, global developmental delay, severe language delay and learning difficulties, but no epilepsy. The authors identified de novo 3.3 Mb deletion at 7q21.11 which included seven protein-coding genes. The breakpoints were reported as 7q21.1 (79,622,282–82,919,619).
A 55 kb deletion in 7q21.11 region encompassing SEMA3E was described by Puvabanditsin et al. (2015) in a patient with the diagnosis of Goldenhar syndrome. Clinical characteristics included congenital microcephaly, bilateral preauricular skin tags, left microtia, absence of the auditory canal, unilateral anophthalmia, facial microsomia, micrognathia and bilateral cleft lip and palate. X-ray showed 13 pairs of ribs.

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What gene changes cause Chromosome 7q21.11 - microdeletion?

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.

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 7q21.11 - microdeletion?

The typical symptoms of the syndrome are:

How does someone get tested for Chromosome 7q21.11 - microdeletion?

The initial testing for Chromosome 7q21.11 - 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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