Deletion Team 22q13.3

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The 22q13.3 deletion syndrome (22q13 deletion syndrome, Phelan-McDermida syndrome, deletion 22q13.3 syndrome, deletion 22q13 syndrome, Phelan-McDermid syndrome) is a chromosomal microprotein malformation syndrome consisting of a long chromosome 22 fragment, The phenotype consists of:

The syndrome is common in men and in women, cases of mesocystis and pure deletions (lack of 22q13.3 in all chromosomes of the body). Due to the difficulty of diagnosis and lack of specific diagnosis criteria, the number of childbirth cases with this syndrome is underestimated. Typical dysmorphic features that may suggest diagnosis are long eyelashes, large or irregularly shaped ear lobes, relatively large hands, dysplastic foot nails, dolichocephalus, full cheeks, rounded nose and sharpened chin. Behavior is recognized as autistic. An elevated pain threshold was reported. Loss of 22q13.3 results from simple deletion, translocation, ring chromosome formation, rarely other abnormalities within this locus, especially in the region including the SHANK3 gene. Bibliography

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