Paula and Bobby
Parents of Lillie
Chromosome 15q26 - Microdeletion
What is Chromosome 15q26 - Microdeletion?
Chromosome 15q26 - Microdeletion is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Several patients with a microscopically visible deletion of terminal 15q have been reported. Bhakta et al. (2005) reviewed 7 patients. Many cases with a ring chromosome 15 have been described, who have de novo deletions of the distal part of 15q (q26.3, q26.2 and/or q26.1). Clinical features are prenatal and postnatal growth retardation, developmental delay, microcephaly, triangular face, hypertelorism, high arched palate, abnormal ears, micrognathia and brachydactyly (Butler et al., 1988; Rogan et al., 1996). Several of the features resemble Russell-Silver syndrome.
Pinson et al. (2005) detected a submicroscopic deletion in a child investigated for Angelman syndrome in whom a subtelomeric control probe hybridizised abnormally. She had a monosomy for a 5.7 Mb region distal to 15q26.2. Clinically she had prenatal and postnatal growth deficiency, microcephaly, triangular face, thin upper lip, large mouth, micrognathia, and minor limb anomalies: cubiti valgi, proximally implanted thumbs, tapering distal fingers, and rocker bottom feet. There were seizures, and a remarkable happy disposition with some paroxysmal laughter. The authors suggested that part of the phenotype was caused by hemizygosity for IGF1R, as was suggested before for the microscopically visible terminal deletions (Tamura et al., 1993). Coarctation of the aorta, a VSD and mitral valve stenosis, were reported by Davidsson et al., (2008).
Slavotinek et al. (2005) reported two patients with a submicroscopic (1-2 Mb) interstitial deletion at 15q26.2 with features resembling Fryns syndrome: congenital diaphragmatic hernia, pulmonary hypoplasia, cardiac defects (transposition of great vessels; aorta stenosis; ASD; VSD), cleft palate, webbed neck, aplasia cutis, and talipes.
* This information is courtesy of the L M D.
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What gene changes cause Chromosome 15q26 - 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 15q26 - Microdeletion?
The typical symptoms of the syndrome are:
How does someone get tested for Chromosome 15q26 - Microdeletion?
The initial testing for Chromosome 15q26 - 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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