English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Plus monthly

Global: Zendy Tools annual

Global: Zendy Tools monthly

Global: Zendy Free Plan

Background  Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders.    Case presentation  We report a child with sexual developmental disorder associated with a peculiar phenotype characterized by severe language impairment and autistic behaviour associated with a mosaicism [45,X(11)/46,XY(89)] and a partial deletion of the short and long arm of Y chromosome (del Yp11.31q11.23) that also involves the loss of both  PCDH11Y  and  NLGN4Y  genes. To our knowledge no study has ever reported the occurrence of the lack of both  PCDH11Y  and  NLGN4Y  located in the Y chromosome in the same patient.    Conclusions  We hypothesized a functional complementary role of  PCDH11Y  and  NLGN4Y  within formation/maturation of the cerebral cortex. The impairment of early language development may be mainly related to the lack of  PCDH11Y  that underlies the early language network development and the later appearance of the autistic behaviour may be mainly related to deficit of inhibitory glicinergic neurotransmission  NLGN4Y- linked.    Supplementary Information  The online version contains supplementary material available at 10.1186/s12920-021-00934-x.

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes