Late diagnosis in multiple X and Y chromosome disorders: Role of learning disabilities and behavioural disorders

Annapia Verri, Anna Cremante, Federica Clerici, Anna Mauri

Research output: Chapter in Book/Report/Conference proceedingChapter


Background: Sex chromosome aneuploidies (SCAs) are the most frequently occurring chromosomal abnormalities with an incidence of 1 in 400 births. Males with SCAs are known to have variability in their developmental profile. Sixty-four percent of males with 47,XXY are never diagnosed, 10% of these cases are diagnosed prenatally by amniocentesis, and 26% are diagnosed postnatally when they show developmental delay, behavioural problems, hypogonadism, gynecomastia, or infertility. The aim of this paper is to evaluate how often developmental delay and behavioural problems can induce an early suspicion of this conditions. Design and Methods: The sample was composed by 48 subjects (mean age=23,5 yrs, range:1-55) with karyotype 47,XXY (77%), 49,XXXXY (6,2%), 48,XXYY (6,2%), mosaicism 47,XXY/48,XXXY (2%), 47,XYY (4,1%), 48,XXXY (2%), 49,XXXYY (2%). Primary caregiver completed a comprehensive questionnaire detailing birth, medical, developmental and psychological history (Tartaglia, 2008). Results: Five subjects had a prenatal diagnosis (10,4%), 15 (31,2%) had a diagnosis before 10 yrs and 28 subjects (58,3%) had a late diagnosis (after 10 yrs). In the post-natal diagnosed group, patients were diagnosed for genital anomalies/dysmorphisms 32,5%; learning disabilities/attention disorders, behavioural disorders were diagnosed in 32,5%, hypogonadism/puberal delay 13,9 %, epilepsy 9,3%, recurrent infections 6,9%, infertility 2,3 %. Conclusion: Boys exhibiting developmental delay with learning and behavioural disorders should be considered for chromosomal analysis early in life. An early identification of the social and behavioural phenotypes in SCAs may enhance the clinical treatment, anticipatory guidance, and care throughout the lifespan.

Original languageEnglish
Title of host publicationAdvances in Genetics Research
PublisherNova Science Publishers, Inc
Number of pages18
ISBN (Electronic)9781629487458
ISBN (Print)9781629487441
Publication statusPublished - Jan 1 2014
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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