We performed a phenotype study of 35 individuals (19 males, 16 females) with @entity3521 chromosome 22 or r(22) with a mean age of 10 years. In common with other studies, a phenotype of moderate-to-profound @entity4207 and delay or absence of speech affected all individuals with the exception of the case with the smallest deletion. Autistic traits were significantly associated with r(22), as shown by an @entity2438 screening questionnaire. Mild and variable @entity154 , predominantly craniofacial and distal limb, were observed. Internal organ involvement was uncommon. Even though @entity3521 chromosomes are reportedly associated with growth abnormalities, only 2 out of 24 individuals showed evidence of @entity851 , while 2 showed accelerated growth. Chromosome 22 long arm deletions, as determined by hemizygosity for informative microsatellite markers, varied from <67 kb to 10.2 Mb in size (or <0.15 to 21% of total chromosome length), with no significant differences in the parental origin of the @entity3521 chromosome. Few phenotypic features correlated with deletion size suggesting a critical gene, or genes, of major effect lies close to the telomere. Loss of the @entity44788 / @entity44788 gene has been proposed to be responsible for the main @entity16 observed in 22q13 monosomies. This study supports this candidate gene by identifying a phenotypically normal r(22) individual whose @entity3521 chromosome does not disrupt @entity44788 . All other r(22) individuals were hemizygous for @entity44788 , and we propose it to be a candidate gene for @entity2438 or abnormal brain development.

Molecular and phenotypic characterization of XXXX chromosome 22.

@entity154 :: ('MESH:D000013', 'Disease') :: ['dysmorphic features'] @entity851 :: ('MESH:D006130', 'Disease') :: ['growth failure'] @entity16 :: ('MESH:D009422', 'Disease') :: ['neurological developmental deficits'] @entity2438 :: ('MESH:D001321', 'Disease') :: ['autism'] @entity3521 :: ('MESH:D012303', 'Disease') :: ['ring'] @entity4207 :: ('MESH:D007859', 'Disease') :: ['learning difficulties'] @entity44788 :: ('85358', 'Gene') :: ['SHANK3', 'PROSAP2']
@entity3521 :: (MESH:D012303,Disease) :: ['ring']
