Experiences of individuals receiving a sex chromosome multisomy diagnosis

Jordan P. Richardson, Nivedita Ahlawat, Kirsten A. Riggan, Sharron Close, Megan A. Allyse

Research output: Contribution to journalArticlepeer-review


Sex chromosome multisomies (SCMs) are genomic conditions with variable phenotypes that range from undetectable to requiring extensive clinical intervention. Currently, many individuals with SCMs are diagnosed in adolescence or adulthood based on physical symptoms related to pubertal development and infertility. Given the expansion of genetic testing in routine clinical practice, the diagnosing clinician is increasingly a primary care or family medicine provider. This study aims to help providers better understand the patient experience of receiving a diagnosis. We conducted a survey of individuals (n = 55) with SCMs using closed and open-ended questions. Open-response questions were qualitatively analyzed and are reported here with the descriptive results of the closed-ended questions. Most participants were diagnosed with 47,XXY (n = 51; 85.0%), identified as White race/ethnicity (n = 46; 88.5%), and were college graduates or higher (n = 29; 54.7%). Many participants reported dissatisfaction with the delivery of the diagnosis, expressing that it was rushed and their provider lacked detailed information about the condition. Participants were frustrated by the general lack of availability of high-quality informational resources from both medical and other sources at the time of diagnosis. Some participants also described the social and psychological impact of the diagnosis and how it was delivered. To the best of our knowledge, this is the largest survey of individuals diagnosed with SCMs, which is notable considering their prevalence and low diagnostic rate. Our findings provide patient-informed insight on how to improve the delivery of SCM diagnoses, especially delivery in a primary care setting, including the provision of up-to-date information and proactive referral to specialty care and counseling services.

Original languageEnglish (US)
Pages (from-to)619-628
Number of pages10
JournalJournal of Community Genetics
Issue number6
StatePublished - Dec 2022


  • Clinical encounter
  • Genetic diagnosis
  • Klinefelter syndrome
  • Psychosocial support
  • Sex chromosome aneuploidy

ASJC Scopus subject areas

  • Epidemiology
  • Public Health, Environmental and Occupational Health
  • Genetics(clinical)


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