In this study, we demonstrate that MBD5 is the only gene in common among all duplication cases and that overexpression of MBD5 is likely responsible for the core clinical features present in 2q23.1 microduplication syndrome. [ohsu.pure.elsevier.com]

• Constipation

  […] curve develop short stature as they age microcephaly, or small head circumference have difficulty walking a broad-based gait Children may also show various types of common facial features (listed below), and different types of skeletal or bone changes. constipation [2q23.org]

  Brachycephaly Short and broad skull 0000248 Broad forehead Increased width of the forehead Wide forehead [ more ] 0000337 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Coarse facial features Coarse facial appearance 0000280 Constipation [rarediseases.info.nih.gov]

• Hirsutism

  Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Coarse facial features Coarse facial appearance 0000280 Constipation 0002019 Everted lower lip vermilion Drooping lower lip Outward turned lower lip [ more ] 0000232 Generalized hirsutism [rarediseases.info.nih.gov]

• Short Attention Span

  attention span self-injurious behavior repetitive behavior aggression autistic-like symptoms* have a slow growth curve develop short stature as they age microcephaly, or small head circumference have difficulty walking a broad-based gait Children may [2q23.org]

• Ataxia

  […] severe Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ] 0010864 Seizure 0001250 Stereotypy Repetitive movements Repetitive or self-injurious behavior [ more ] 0000733 30%-79% of people have these symptoms Ataxia [rarediseases.info.nih.gov]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Copy number variations associated with abnormal gene dosage have an important role in the genetic etiology of many neurodevelopmental disorders, including intellectual disability (ID) and autism. [ohsu.pure.elsevier.com]

[…] of 2q23.1 microdeletion syndrome and that this epigenetic regulator significantly contributes to ASD risk, warranting further consideration in research and clinical diagnostic screening and highlighting the importance of chromatin remodeling in the etiology [mendeley.com]

Deletion CpG Clusters Epigenesis, Genetic Related Feeds Autism: Treatment Targets The absence of effective treatments for autism are due to the high clinical and genetic heterogeneity between affected individuals, restricted knowledge of the underlying pathophysiological [meta.org]

These random events cannot be prevented and could happen to any pregnancy. [2q23.org]