The molecular basis of the renal malformation is unknown; deletion of one or more genes could be responsible. The 22q11.2 microdeletion syndrome is a frequent cause of kidney malformation and ...

据研究人员报告，染色体 22q11.2 缺失会增加脑脊膜脊髓膨出的风险；脑脊膜脊髓膨出是最严重和最常见的脊柱裂形式之一。根据这些研究发现 ...

DiGeorge syndrome, a 22q11.2 deletion syndrome, is caused when a small portion of chromosome 22 is missing. The condition can occur in individuals born from a parent with the dominant contiguous ...

The researchers examined a genetic condition known as 22q11.2 deletion syndrome. Humans usually have 23 pairs of chromosomes, inheriting one copy of chromosome 22 from each parent. But ...

Tovar Pensa, Co-First Author, University of Texas Health Science Center at Houston DiGeorge syndrome, a 22q11.2 deletion syndrome, is caused when a small portion of chromosome 22 is missing.

[Analysis of a twin pregnancy with false negative result for 22q11.2 deletion syndrome by expanded non-invasive prenatal testing]. [Discussion on the status quo and solutions to the prevention and ...