Andrology-Open Access
Open Access

Mauri Anna

Publications

• Research Article
  Variability in Cognitive Behavioral Phenotypes in Klinefelter Syndrome (KS) and Other Sex Chromosomal Aneuploidies (SCAs)
  Author(s): Annapia Verri, D’Angelo Carmen, Cremante Anna, Clerici Federica, Mauri Anna and Castelletti Chiara Annapia Verri, D’Angelo Carmen, Cremante Anna, Clerici Federica, Mauri Anna and Castelletti Chiara
  
  Sex Chromosomal Aneuploidies (SCAs) are the most frequently occurring chromosomal abnormalities with an incidence of 1 in 450 births. Males with SCAs are known to have variability in their developmental profile. Aim of this paper is to illustrate clinical variability in the different SCAs. The sample was composed by 53 subjects (mean age=21.16 years, range: 13-54) with karyotype 47, XXY (73%), 49, XXXXY (7%), 48, XXYY (9%), mosaicism 47, XXY/48, XXXY (2%), 47, XYY (5%), 48, XXXY (2%), 49, XXXYY (2%). Only 5 subjects have been diagnosed prenatally (4 KS and 1 XXYY). Primary caregivers completed a comprehensive questionnaire detailing birth, medical, developmental and psychological history. Cognitive and behavioral assessment was performed with clinical interviews with DSM IV criteria and psychometric questionnaires (WISC-R, WAIS-R, CPM, Token Test, VABS, SCL90, and SCQ). Twenty-one sex.. View More»
  DOI: 10.4172/2167-0250.1000175

  Abstract PDF

Relevant Topics