Paula and Bobby
Parents of Lillie
What is 22q11?
22q11 is a rare disease. It is also known as Chromosome 22q11.2 Microduplication Syndrome.
* This information is courtesy of the L M D.
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What gene changes cause 22q11?
The syndrome is inherited in the following inheritance pattern/s:
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 22q11?
The typical symptoms of the syndrome are:
Microcephaly, Transposition of the great arteries, Ventricular septal defect, Tetralogy of Fallot, Ptosis, Scoliosis, Sporadic, Cleft palate, Aplasia/Hypoplasia of the thymus, Autism, Attention deficit hyperactivity disorder, Abnormal aortic morphology, Abnormality of the pinna, Abnormality of the philtrum, Abnormality of the pharynx, Abnormality of the voice, Abnormality of the upper urinary tract, Malformation of the heart and great vessels, Epicanthus, Malar flattening, Downslanted palpebral fissures, Depressed nasal ridge, Displacement of the urethral meatus, Hearing impairment, Nasal speech, Hypertelorism, High palate, High forehead, Hypoplastic left heart, Cognitive impairment, Global developmental delay, Growth delay, Delayed speech and language development, Anterior creases of earlobe, Obsessive-compulsive behavior, Autosomal dominant inheritance, Seizure, Stereotypy, Velopharyngeal insufficiency, Specific learning disability, Narrow face, Low-set ears, Muscular hypotonia, Intellectual disability, Mic
How does someone get tested for 22q11?
The initial testing for 22q11 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.
What is FDNA Telehealth?
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