22q11 2 deletion syndrome - Axtarish в Google
1 дек. 2019 г. · Many children with 22q11.2 deletion syndrome have developmental delays, including delayed growth and speech development, and some have mild ...
13 янв. 2024 г. · DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a condition caused when a small part of chromosome 22 is missing.
DiGeorge syndrome is typically due to the deletion of 30 to 40 genes in the middle of chromosome 22 at a location known as 22q11.2. About 90% of cases occur due ... Signs and symptoms · Genetics · Diagnosis · Treatment
Синдром Ди Георга Заболевание
Синдром Ди Георга — разновидность идиопатического изолированного гипопаратиреоза; редкое врождённое заболевание. Генетической причиной синдрома Ди Георга является делеция центрального участка длинного плеча хромосомы 22 размером 1.5-3 млн.п.н. Википедия
МКБ-10 : D82.1
МКБ-11 : LD44.N0
МКБ-9 : 279.11, 758.32
OMIM : 188400
A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial ...
22q11.2 deletion syndrome is a genetic condition that affects many parts of the body. It can cause intellectual disability, learning and social challenges.
DiGeorge syndrome is a condition present from birth that can cause a range of lifelong problems, including heart defects and learning difficulties.
DiGeorge syndrome (22q11.2 deletion syndrome) is a genetic condition that affects several parts of your body. A missing piece of chromosome 22 causes it.
Signs and symptoms may include: cleft palate, heart defects, recurrent infections, unique facial characteristics, feeding problems, kidney abnormalities, ...
26 июл. 2023 г. · 22q11.2DS is a disorder caused by a small piece of chromosome 22 missing. 22q11.2DS is associated with a range of problems including: congenital heart disease.
The 22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder. In children with this syndrome, a tiny piece of chromosome 22 is missing.
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