22q11.2 deletion syndrome

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

Cognitive impairment

Abnormality in the process of thought including the ability to process information.


Total: 3

                       


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PMID (PMCID)
29622714
 MALE Middle Aged
Hypocalcaemia in an adult: the importance of not overlooking the cause.
Abrantes C, Brigas D, Casimiro HJ, Madeira M.
BMJ Case Rep. 2018;2018:.
Low parathyroid hormone and 25-hydroxyvitamin D, along with facial anomalies, palate defect and cognitive impairment with concomitant psychiatric disorder led to a suspicion of a DiGeorge/velocardiofacial/22q11.2 deletion syndrome (DS), which was confirmed through genetic testing.
27858403
 FEMALE
Cardiac rehabilitation in an adolescent with DiGeorge Syndrome.
Kim DJ, Lee KY, Choe Y, Han JY, Choi IS.
Eur J Phys Rehabil Med. 2017;53(3):462-465.
DiGeorge Syndrome is a rare disease that has variable clinical symptoms resulting from 22q11 deletions, included cardiac abnormality, abnormal face and thymic aplasia, and cognitive impairment.
12078024
 MIXED_SAMPLE Adult
[Microdeletion 22q11.2. A too rarely diagnosed genetic change in psychiatric illnesses].
Leyhe T, Haarmeier T, Dufke A, Giedke H.
Nervenarzt. 2002;73(5):452-7.
Here we report the case of a 30-year-old man presenting with slight facial dysmorphisms, hypoparathyreoidism, minor cardiac anomalies, and slight cognitive impairments who had developed a severe personality disorder which eventually led to the diagnosis of microdeletion 22q11.2 with maternal inheritance.