Chromosome 17q23.1-q23.2 Duplication syndrome

What is Chromosome 17q23.1-q23.2 Duplication syndrome?

Chromosome 17q23.1-q23.2 Duplication syndrome is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Alvarado et al. (2010) identified a recurrent chromosome 17q23.1q23.2 microduplication in 3 of 66 probands with familial isolated clubfoot. The chromosome 17q23.1q23.2 region contains the T-box transcription factor TBX4, a likely target of the bicoid-related transcription factor PITX1 previously implicated in clubfoot etiology. Clubfoot was present in seven patients with the microduplication and absent in three patients. One female with the duplication had bilateral hip dysplasia, and two parents with the duplication denied any problems with their lower extremities or hips and had normal physical examinations. All cases with clubfoot were male, and clubfoot was bilateral in all except one case. The hands and upper extremities were unaffected in all cases. Clinically, the feet were short, with broad, overlapping toes, a marked contrast to the long, thin digits of individuals with the previously described chromosome 17q23 microdeletion. Mild nail hypoplasia was present in two affected individuals. Mild short stature was common. A variety of subtle skeletal abnormalities were seen frequently with the chromosome 17q23.1q23.2 microduplication, including enlargement of the distal fibular head, broad, shortened first and second metatarsals and shortened calcaneus, tufted, triangular distal phalanx of the first toe and hypoplastic lateral distal tibial epiphysis. In the pelvis, the ischium was thickened in patients with microduplications, in contrast to the hypoplastic ossification of the ischiopubic junction seen with the reciprocal microdeletion. The ilium was often elongated and narrow with an absent iliac flare, giving it a moth-eaten appearance. Coxa valga and genu valgum were present in many cases. The patella was unaffected, in contrast to the patellar hypoplasia that is common in patients with either the chromosome 17q23.1q23.2 microdeletion or small patella syndrome due to TBX4 gene mutations.

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* This information is courtesy of the L M D.

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What gene changes cause Chromosome 17q23.1-q23.2 Duplication syndrome?

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

Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

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.

OMIM Number - 613618 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
TBX4 - 17q23.2

What are the main symptoms of Chromosome 17q23.1-q23.2 Duplication syndrome?

The typical symptoms of the syndrome are:
Abnormality of chromosome segregation, Acetabular dysplasia, Abnormality of the hip bone, Talipes equinovarus, Small nail, Talipes, Coxa valga, Autosomal dominant inheritance, Hip dysplasia, Genu valgum, Hypoplastic toenails, Short stature

How does someone get tested for Chromosome 17q23.1-q23.2 Duplication syndrome?

The initial testing for Chromosome 17q23.1-q23.2 Duplication syndrome 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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