Thelansis

  22q11.2 deletion syndrome (DS 22q11.2), also known by several other names, such as "DiGeorge syndrome" and "velocardiofacial syndrome," is a rare genetic disorder caused by a deletion of the long arm of chromosome 22, specifically at locus q11.2. This deletion is most commonly a 3 million base pair deletion caused by non-allelic meiotic recombination during ovogenesis or spermatogenesis. In most cases, there are no other cases in the family (de novo), but in about 10% of cases, the syndrome is inherited from a parent. The risk of recurrence between siblings in a de novo case is 2–3% due to low-grade parental germline mosaicism. Affected individuals have a 50% risk of having an affected child. The TBX1 gene is one of the main genes involved in the typical abnormalities associated with the disorder, including the development of the bone structure of the face and neck, the development of large arteries, the structure of the ears, and the development of the thymus a...

 22q11.2 deletion syndrome (DS 22q11.2), also known by several other names, such as "DiGeorge syndrome" and "velocardiofacial syndrome", is a rare genetic disorder caused by a deletion of the long arm of chromosome 22, specifically at locus q11.2. This deletion is most commonly a 3 million base pair deletion caused by non-allelic meiotic recombination during ovogenesis or spermatogenesis. In most cases, there are no other cases in the family (de novo), but in about 10% of cases, the syndrome is inherited from a parent. The risk of recurrence between siblings in a de novo case is 2–3% due to low-grade parental germline mosaicism. Affected individuals have a 50% risk of having an affected child. The TBX1 gene is one of the main genes involved in the typical abnormalities associated with the disorder, including the development of the bone structure of the face and neck, the development of large arteries, the structure of the ears, and the development of the thymus and ...