Autism spectrum disorders in XYY syndrome: two new cases and systematic review of the literature

Abstract

This study underlines the underestimated role of the Y chromosome in ASD, and we postulate that all the ASD associated with the XYY karyotype may presumably fall within mild degree of ASD as in our cases.

Behavioral phenotypes in males with XYY and possible role of increased NLGN4Y expression in autism features

“…This cross‐sectional study evaluated behavioral features in 26 boys with XYY, using the SRS to measure autistic features: the Conners' rating scale for ADHD symptoms, the RCMAS for anxiety symptoms and the CDI for depressive symptoms. Our results support previously published studies which show an increased risk of ASD and ADHD symptoms in boys with XYY compared to TD boys (Bardsley et al ; Bishop & Scerif ; Cordeiro et al ; Margari et al ; Ross et al ). ASD‐related symptoms, as reported on the SRS, and attention‐related behaviors on the Conners' rating scale including DSM‐IV inattention and hyperactive were increased in the XYY group as a whole (based on t‐scores), and compared with the TD control group.…”

“…In contrast, on the RCMAS and the CDI, there was no increase in reported symptoms of anxiety or depression reported by boys in the XYY group as a whole, or compared with the control group. While anxiety and depression symptoms have previously been reported to be more common in XYY, this association is less strongly associated with XYY than the ADHD‐related behaviors (inattention, hyperactivity and impulsivity) and ASD symptoms (Bardsley et al ; Bishop & Scerif ; Cordeiro et al ; Margari et al ; Ross et al ).…”

“…The male sex chromosome aneuploidy disorder 47,XYY (XYY syndrome) is associated with an increased risk for neurodevelopmental phenotypes, including developmental delays, attention‐deficit hyperactivity disorder (ADHD), learning disabilities, social‐emotional difficulties and autism spectrum disorders (ASDs) (Bardsley et al ; Bishop & Scerif ; Cordeiro et al ; Geerts et al ; Margari et al ; Robinson et al ; Ross et al , ; Tartaglia et al ). Additional neurocognitive phenotypes in XYY include increased difficulties with language and an increased frequency of seizure disorders (present in 13%) (Bardsley et al ).…”

Bendamustine can be a bridge to allogeneic transplantation in relapsed Hodgkin lymphoma refractory to brentuximab vedotin

“…We identified 47,XYY in 11/10,939 (0Á1%) with diagnostic bone marrow cytogenetics and 3/2,443 (0Á12%) with SNP analysis of germline remission blood samples, including two with evidence of 47,XYY/46,XY mosaicism (patients 2 and 7 in Table SI). Chromosome 47,XYY syndrome is a sex chromosome anomaly in males associated with tall stature, macrocephaly, macroorchidism, hypotonia, delayed development, autism spectrum disorders and infertility resulting from a constitutional extra Y chromosome (Margari et al, 2014). The reported incidence of 47,XYY in the general population ranges from 14Á2 to 375 per 100 000 newborn boys (0Á014-0Á375%) (Margari et al, 2014).…”

“…Chromosome 47,XYY syndrome is a sex chromosome anomaly in males associated with tall stature, macrocephaly, macroorchidism, hypotonia, delayed development, autism spectrum disorders and infertility resulting from a constitutional extra Y chromosome (Margari et al, 2014). The reported incidence of 47,XYY in the general population ranges from 14Á2 to 375 per 100 000 newborn boys (0Á014-0Á375%) (Margari et al, 2014). There have been numerous case reports of leukaemia in patients with 47,XYY syndrome, including patients with ALL (Sandlund et al, 1997;Taub et al, 1993).…”