Four scientific articles have focused on the 2q31.1 microdeletion syndrome. Boyan Dimitrov and his colleagues examined five children and concluded that losing part of

This article describes seven previously unreported patients with deletions at 2q33.1, all partially overlapping the previously described critical region for the 2q33.1 microdeletion syndrome. …

2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically …

A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterised by severe intellectual …

Deletions of 2q33.1 involving the SATB2 gene are relatively rare. This disorder is known also as Glass syndrome. Only 33 cases of this condition have been reported previously. The authors …

At least one third of individuals have a history of previous fractures and about one quarter of affected individuals have documented low bone mineral density. Other finding can include pre- …

2022年4月18日 · Genome-wide association studies have shown that genetic variants at 2q33.1 are strongly associated with schizophrenia. However, potential causal variants in this locus …

SATB2 基因 (OMIM：608148)位于2号染色体长臂 (2q33.1)，长约201.7 kb (chr2：200 134 223～200 335 989, hg19)，包含12个外显子 (NM_015265)，编码733个氨基酸。 SATB2 所表 …

2q31.1微缺失综合征 有人认为，当缺失发生在2q31.1带约173.2Mb- 178Mb位置时，就会出现临床上 可识别的综合征。该综合征的一个明显特征是手脚异常，可能非常轻微或很明 显。该类患 …

SATB2-associated syndrome (SAS) is a disorder caused by mutations of the SATB2 gene or deletion of this gene within 2q33.1, a region within the long arm of chromosome 2. The …