Paula and Bobby
Parents of Lillie
Chromosome 19q13 - Microduplication
What is Chromosome 19q13 - Microduplication?
Chromosome 19q13 - Microduplication is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
In a large family, Su et al. (2005) found 6 members with a deletion of 9p24.1-ter and a duplication of 19q13.4-ter. Features included mental retardation (mild to moderate), trigonocephaly, small nose with stunted tip, and long philtrum. In addition they had wide-set nipples, extra finger flexion creases, hernia, genital hypoplasia, scoliosis, and skin hypopigmentations. The patient reported by Sauter et al., (2007) had the trisomy detected by quantitative real-time PCR and FISH. She had a high forehead, broad nasal bridge, mid-face hypoplasia, low-set ears and a short neck.
No submicroscopic duplication 19qter has been reported
* This information is courtesy of the L M D.
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What gene changes cause Chromosome 19q13 - 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 19q13 - Microduplication?
The typical symptoms of the syndrome are:
How does someone get tested for Chromosome 19q13 - Microduplication?
The initial testing for Chromosome 19q13 - 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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