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pubmed:abstractText |
The 22q13.3 deletion syndrome (or Phelan-McDermid syndrome, MIM 606232) is characterized by developmental delay, absent or severely delayed speech, neonatal hypotonia, autistic behavior, normal to accelerated growth, and minor dysmorphic facial features. Among the three genes in the minimal critical region (from the centromere to the telomere: SHANK3, ACR and RABL2B), the defect in the SHANK3 gene is considered to be the cause of the neurobehavioral symptoms.
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pubmed:affiliation |
Histology-Embryology-Cytogenetics Department, APHP-Jean Verdier University Hospital, UFR SMBH, Paris 13 University, Bondy, France. andree.delahaye@jvr.aphp.fr
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