Chromosome 3q29 - microduplication

What is Chromosome 3q29 - microduplication?

Chromosome 3q29 - microduplication is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Microscopically visible duplications of 3qter are well known; the phenotype overlaps with that of Cornelia de Lange syndrome: mental retardation, growth retardation, microcephaly, unusual face, limb anomalies, heart defects, and genito-urinary anomalies (Rossi et al., 2002). Isolated forms are rare (Faas et al., 2002). The breakpoint is usually at 3q26.3.
Battaglia et al., (2006) reported the first submicroscopical duplications in 4 patients from a single family who had in addition a monosomy 10qter. Consistent features were mental retardation, poor speech, growth retardation, microcephaly, low anterior hairline, thick eyebrows, hypertelorism, epicanthi, prominent nose, broad nasal ridge and tip, highly arched palate, prominent chin, low-set and posteriorly rotated ears, and short fingers and toes including expressed shortening of the 4th metatarsal, and hypotonia. The authors felt symptoms fitted best with the dup 3qter. A 3-generation family was reported by Lisi et al., (2008). The duplication could be cytogenetically identified and the retardation was mild to moderate. The patients were facially alike, but the features were subtle
The duplication reported by Fernandez-Jaen et al., (2014) resulted in seizures, myoclonic seizures, lower limb spasticity and severe delay

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* This information is courtesy of the L M D.

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What gene changes cause Chromosome 3q29 - microduplication?

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

Sporadic - 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.

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 3q29 - microduplication?

The typical symptoms of the syndrome are:

How does someone get tested for Chromosome 3q29 - microduplication?

The initial testing for Chromosome 3q29 - microduplication 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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