Chromosome 10q22.3-q23.2 Deletion Syndrome
Description
The 10q22.3-q23.2 region is characterized by a complex set of low-copy repeats (LCRs), which can give rise to various genomic changes mediated by nonallelic homologous recombination (NAHR). Recurrent deletions of chromosome 10q22.3-q23.2, including the BMPR1A gene (OMIM ) have been associated with dysmorphic facies, developmental delay, and multiple congenital anomalies. Some patients with deletions that extend distally to include the PTEN gene (OMIM ) have a more severe phenotype with infantile/juvenile polyposis, macrocephaly, dysmorphic facial features, and developmental delay (summary by van Bon et al., 2011).
Clinical Features
Top most frequent phenotypes and symptoms related to Chromosome 10q22.3-q23.2 Deletion Syndrome
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
- Scoliosis
- Hypertelorism
- Neoplasm
- Failure to thrive
And another 42 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— The onset for some of the known clinical features related to this disease may vary, including congenital onset .
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Sources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FRANK-TER HAAR SYNDROME; FTHS NEPHROGENIC DIABETES INSIPIDUS MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE; LIMM