2q23.1 microdeletion syndrome is a rare chromosome disorder. Symptoms may include seizures, moderate to severe learning problems, speech delays, behavior problems, trouble sleeping, and developmental delays (learn to crawl, sit or walk later than other babies).

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，肥胖和骨骼异常，通常包括异常短的手指和脚趾 (brachydactyly)。 研究人员正在努力确定所有导致2q37缺失综合征特征的基因。 虽然删除的大小因受影响的个体而异，但它总是包含一种称为 HDAC4 的基因。 该基因的缺失被认为是2q37缺失综合征的许多特征，例如智力残疾，行为问题和骨骼异常。 …

Six submicroscopic deletions comprising chromosome band 2q23.1 in patients with severe mental retardation (MR), short stature, microcephaly and epilepsy have been reported, suggesting that haploinsufficiency of one or more genes in the 2q23.1 region might be responsible for the common phenotypic fea …

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 leading to the core phenotypes (developmental delay, motor delay, language impairment, behavioral problems, and autistic-like symptoms) of both disorders . 3 In Mullegama ...

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, disturbed sleeping...

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 development, chromosomes should contain just the right amount of material – not too much and not too little. Even a tiny piece of missing material can disrupt ...

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 offering up to date information, events/fundraising, research and latest scientific papers.

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 authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. To date, fifteen patients have been reported.

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 (hypotonia). Symptoms also include autism-like behavior, and other behavioral differences.