2q23.1 microdeletion syndrome is a rare chromosome disorder. Symptoms may include seizures, moderate to severe learning problems, speech delays, behavior problems, trouble sleeping, …

2q37缺失综合征是由染色体2的长 (q)臂末端附近的遗传物质的缺失引起的，位于指定为2q37的位置。 这种情况的症状和体征差异很大，但受影响的个体通常有智力残疾，行为问题，肥胖和 …

Six submicroscopic deletions comprising chromosome band 2q23.1 in patients with severe mental retardation (MR), short stature, microcephaly and epilepsy have been reported, suggesting …

2q23.1 deletion syndrome and 2q23.1 duplication syndrome are associated with reciprocal deletions and duplications within chromosome region 2q23.1, with altered dosage of MBD5 …

2009年10月7日 · Patients with a 2q23.1 microdeletion present with a variable phenotype and the diagnosis should be considered in mentally retarded children with coarse facies, seizures, …

2q23.1 microdeletion syndrome A 2q23.1 microdeletion is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 2. For healthy …

This site is specifically designed for individuals and families experiencing life with 2q23.1 (MBD5) deletion/duplication disorders. Our aim is to provide a helpful resource for families as well as …

Clinical resource with information about 2q23.1 microdeletion syndrome and its clinical features, available genetic tests from US and labs around the world and links to practice guidelines and …

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate …

2q23.1 microduplication syndrome is a rare condition caused by an extra piece of genetic material on chromosome 2. It is characterized by global developmental delay and low muscle tone …