Paula and Bobby
Parents of Lillie
Chromosome Xp22.3 - Microdeletion
What is Chromosome Xp22.3 - Microdeletion?
Chromosome Xp22.3 - Microdeletion is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Numerous patients with deletions of Xpter have been reported and the clinical presentation is dependent on the deleted genes and can for males result in a combination of the following disorders: short stature (SS), X-linked recessive chondrodysplasia punctata (CDPX), mental retardation (MRX), ichthyosis (XLI) and Kallmann syndrome (KAL) (Ballabio et al., 1989, 1992). One gene for short stature, the short stature homeobox-containing gene (SHOX) (Rao et al., 1997), was also shown to be mutated or deleted in families with Leri-Weill dyschondrosteosis , (Belin et al., 1998 and Shears et al., 1998).
Although a putative locus for mental retardation (MRX49) have been located distal from the STS locus (Claes et al., 1997) Tobias et al., (2001) reported boy with a normal intelligence and a telomeric deletion including the STS locus due to a der(X)t(X;Y)(p22.31;q11.21). Clinically there is a much similarity with the case reported by De Vries et al., (1999) with a submicroscopic Xp22.31->pter deletion with a breakpoint just upstream to the STS locus. The latter boy, however was, mentally retarded.
A mother and 2 of her children (one male one female) had a Xp22.2-22.3 deletion (Chocholska et al., 2006). The mother was asymptomatic, her son was mentally handicapped, had a retinal dystrophy, broad short hands and dry skin. Her daughter, was also mentally handicapped, ataxic and microcephalic.
The patient reported by van Esch et al., (2007) was floppy had myoclonic jerks and infantile spasms, and made little of no progress during the first year of life.He had microphthalmia and cataracts and had a Fallots tetralogy. A Chromosomes were normal, but by using an X-chromosome array, a 2.8Mb deletion was found at Xp22 taking out both the Nance-Horan gene and CDKL5, known to be involved in the early seizure variant of Rett syndrome. A follow-up of the patient (Mathys et al., 2007) revealed microphthalmia, microcornea, corticonuclear cataract and absent visual contact at 22 months. His retinal pigment epithelium was altered.
The patient reported by Lonardo et al., (2007) had ichthyosis, cataracts, deafness, MR, attention deficit with hyperactivity, chondrodysplasia punctata, oligodontia and facial dysmorphism. The deletion was of Xp22.3. An 8.41 Mb deletion of Xp22.3 resulted in ichthyosis, MR, short stature, cortical heterotopia and a Dandy-Walker (van Steensel et al., 2008).
* This information is courtesy of the L M D.
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What gene changes cause Chromosome Xp22.3 - 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 Xp22.3 - Microdeletion?
The typical symptoms of the syndrome are:
How does someone get tested for Chromosome Xp22.3 - Microdeletion?
The initial testing for Chromosome Xp22.3 - 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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