Cortés-Martín Jonathan, Peñuela Nuria López, Sánchez-García Juan Carlos, Montiel-Troya Maria, Díaz-Rodríguez Lourdes, Rodríguez-Blanque Raquel
Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, 18014 Granada, Spain.
Department of Nursing, School of Health Sciences, University of Granada, 18016 Granada, Spain.
Children (Basel). 2022 Aug 3;9(8):1168. doi: 10.3390/children9081168.
22q11.2 deletion syndrome (DS 22q11.2) is a rare disease of genetic origin, caused by the loss of the q11.2 region of chromosome 22. It affects one in 4000 live newborns, and among the clinical manifestations that can occur in this syndrome are abnormalities in the parathyroid glands (producing calcium deficits), the palate, the heart and the thymus. It is also known as DiGeorge syndrome or velocardiofacial syndrome, among other names, depending on the clinical presentation of each individual. The main objective of the review was to update information on DS 22q11.2 from publications in the scientific literature. The daily activities of these patients are seriously impaired, due to the impact of the clinical manifestations. Interventions can be performed to improve their social, cognitive and emotional skills, thus increasing their ability to perform different daily activities.
22q11.2缺失综合征（DS 22q11.2）是一种罕见的遗传性疾病，由22号染色体q11.2区域缺失所致。每4000例活产新生儿中就有1例受其影响，该综合征可能出现的临床表现包括甲状旁腺异常（导致钙缺乏）、腭部、心脏和胸腺异常。根据个体临床表现的不同，它还有迪乔治综合征或腭心面综合征等其他名称。该综述的主要目的是根据科学文献中的出版物更新关于DS 22q11.2的信息。由于临床表现的影响，这些患者的日常活动受到严重损害。可以采取干预措施来提高他们的社交、认知和情感技能，从而增强他们进行不同日常活动的能力。
