Paula and Bobby
Parents of Lillie
Chromosome 9q34 - Microduplication
What is Chromosome 9q34 - Microduplication?
Chromosome 9q34 - Microduplication is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
In a family with a translocation between 9q34.3 and 22p11.2 Sanger et al., (2005) described one member with a del 9pter and one adult female relative with a somewhat slow development and high palate, who had three children of whom one was stated to be slow in development as well (not tested). Mizuno et al., (2011) presented 2 sibs with a cryptic 9q34.1 deletion. Natera-de Benito et al., (2015) reported 2 cases and reviewed the literature. They suggest that there are 2 phenotypes dependent on the size of the duplication. The larger having obesity, scoliosis, dolichocephaly, facial asymmetry, narrow horizontal palpebral fissures, deep-set eyes, a long nose and prominent chin. A smaller duplication is milder with round face, hypertelorism, a depressed nasal bridge, telecanthus and almond shaped eyes.
Duplications of EHMT1 can also cause Kleefstra syndrome (Schwaibold et al., 2014).
* This information is courtesy of the L M D.
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What gene changes cause Chromosome 9q34 - 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 9q34 - Microduplication?
The typical symptoms of the syndrome are:
How does someone get tested for Chromosome 9q34 - Microduplication?
The initial testing for Chromosome 9q34 - 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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