Paula and Bobby
Parents of Lillie
10p15.3 microdeletion syndrome
What is 10p15.3 microdeletion syndrome?
10p15.3 microdeletion syndrome is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Nineteen individuals were reported by DeScipio et al., (2012) with 10p15.3 deletions. Cognitive/speech/behaviour problems were present in those clinically examined and although they were facially dysmorphic, recognition might be difficult. Facial dysmorphism, was not significant in the mononozygotic twins reported by Vargiami et al., (2014). The twins were neurologicaaly severely affected, had dystonic movements, major swallowing difficulties, and were deaf and cerebrally blind. Both had small omphaloceles and coronal craniosynostosis.
Cleft lip and palate, short stature and intellectual disability were the main features in the child reported by Gamba et al., (2015). A girl, her half-sister and mother all had the same deletion (Eggert et al., 2016). They all had intellectual disability, speech delay and a flat nasal bridge, hypertelorism, short palpebral fissures, epicanthic folds, wide-spaced teeth, taperiing of the fingers and toe clinodactyly.
Eggert and colleagues (2016) described two half sisters with microdeletion in 10p15.3. They compared the features of these two siblings with sixteen previously reported cases. The clinical features included intellectual disability, behavioural abnormalities and dysmorphic features (epicanthal folds, wide intercanthal distance, wide nasal bridge and short palpebral fissures). Limb abnormalities included genu valgum, tapered fingers, partial syndactyly of toes, overriding toes, flat feet and clinodactyly. Some patients had cardiac anomalies, constipation and susceptibility to infection. Dental diastema was present in the two sisters.
* This information is courtesy of the L M D.
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What gene changes cause 10p15.3 microdeletion 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.
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 10p15.3 microdeletion syndrome?
The typical symptoms of the syndrome are:
How does someone get tested for 10p15.3 microdeletion syndrome?
The initial testing for 10p15.3 microdeletion 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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