Childhood Psychosis Combined with XYY Abnormalities

Abrams, Naomi; Pergament, Eugene

doi:10.1080/00221325.1971.10532589

Cited by 26 publications

(6 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Therefore, the patient was given a diagnosis of PDDNOS. Several reports have described the association of autism with XYY syndrome (Abrams & Pergament 1971;Nielsen et al 1973;Gillberg et al 1984). The rare occurrence of autism (about 4±5 per 10 000) and the resultant low chance occurrence (one in 2 000 000) of this disorder being associated with XYY, makes these few reported cases significant (Gillberg et al 1984).…”

Section: Discussionmentioning

confidence: 99%

Chromosomes in autism and related pervasive developmental disorders: a cytogenetic study

Weidmer-Mikhail

Sheldon

Ghaziuddin

1998

J intellect Disabil Res

View full text Add to dashboard Cite

Few studies have examined the occurrence of chromosome abnormalities in a large sample of patients with autism and related pervasive developmental disorders (PDDs). In the present report, the authors examined a consecutive series of 92 children with PDDs (DSM-III-R; 75 males and 17 females). A cytogenetic examination, including growth in folate deficient medium, was performed in all cases. Three patients (3.2%) (two females and one male) showed chromosome abnormalities: deletion of the long arm of chromosome 8; tetrasomy of chromosome 15; and XYY syndrome. Only the subject who had tetrasomy 15 met the criteria for autistic disorder, while the other were diagnosed as suffering from a PDD not otherwise specified (PDDNOS). Another patient showed an abnormal fragile site at Xq27 in three out of 100 cells. However, subsequent molecular studies did not confirm the presence of fragile-X syndrome. These results suggest that chromosome abnormalities are uncommon in traditional autism and may be relatively more common in people with PDDNOS.

show abstract

Section: Discussionmentioning

confidence: 99%

Chromosomes in autism and related pervasive developmental disorders: a cytogenetic study

Weidmer-Mikhail

Sheldon

Ghaziuddin

1998

J intellect Disabil Res

View full text Add to dashboard Cite

show abstract

“…A Y chromosome role in autism has been proposed since structural abnormalities [5][6][7] and aneuploidy [8][9][10][11][12] of the Y chromosome have been reported in boys with pervasive developmental disorders or autism. Furthermore, males with a 47, XYY karyotype exhibit a high incidence of cognitive, language, and behavioural deficits.…”

mentioning

confidence: 99%

Y chromosome haplogroups in autistic subjects

et al. 2002

View full text Add to dashboard Cite

The male to female ratio in autism is 4:1 in the global autistic population, but increases to 23:1 in autistic subjects without physical or brain abnormalities. 1 Despite this well-recognised gender difference, male predisposition to autistic disorder remains unexplained and the role of sex chromosomes is still debated. Numerical and structural abnormalities of the sex chromosomes are among the most frequently reported chromosomal disorders associated with autism. However, genome scans have failed to detect linkage on the X chromosome 2-4 and this approach cannot study the non-recombining region of the Y chromosome. In this study, we searched for a specific Y chromosome effect in autistic subjects. Using informative Y-polymorphic markers, the Y chromosome haplotypes of 111 autistic subjects from France, Sweden and Norway were defined and compared with relevant control populations. No significant difference in Y-haplotype distribution between the affected and control groups was observed. Although this study cannot exclude the presence of a Y susceptibility gene, our results are not suggestive of a Y chromosome effect in autism.

show abstract

“…A Y chromosome role in autism has been proposed because structural abnormalities and aneuploidy of the Y chromosome have been reported in boys with pervasive developmental disorders or autism. [14][15][16][17][18][19] Males with a 47, XYY karyotype often exhibit an autistic phenotype. 20,21 A cross-sectional, multicenter study of 95 males with XXYY syndrome revealed autism spectrum disorders in 28.3% cases.…”

Section: Resultsmentioning

confidence: 99%

Association of Y Chromosome Haplotypes With Autism

Serajee

Huq

2009

J Child Neurol

View full text Add to dashboard Cite

There is significant male excess in autism. In this study, we investigated a possible Y chromosome effect by haplotype analysis. We investigated 12 single-nucleotide polymorphisms in Y-linked neuroligin 4, transducin beta-like 1, and eukaryotic translation initiation factor 1a genes in 146 autistic participants and 102 control participants of European American origin. The set of 12 single-nucleotide polymorphisms defined 9 Y chromosome haplotypes in autistic and control participants. Although the 2 most frequent haplotypes were equally distributed in the autistic and control participants, some haplotypes were overrepresented or underrepresented in autistic participants. The distribution of haplotypes between the autistic and control groups, as determined by Monte Carlo tests with Clump software, was significantly different (P = .0001 with 100,000 simulations). Our results are suggestive of a Y chromosome effect in autism.

show abstract

Childhood Psychosis Combined with XYY Abnormalities

Cited by 26 publications

References 9 publications

Chromosomes in autism and related pervasive developmental disorders: a cytogenetic study

Chromosomes in autism and related pervasive developmental disorders: a cytogenetic study

Y chromosome haplogroups in autistic subjects

Association of Y Chromosome Haplotypes With Autism

Contact Info

Product

Resources

About