Abstract Marfanoid habitus and intellectual disability (MHID) co-occur in multiple neurodevelopmental disorders (NDD). Among those, Lujan-Fryns, an X-linked genetic disorder associated with variants in MED12 was the first such syndrome identified. Accurate molecular diagnosis for these MHID syndromes remains a challenge due to significant clinical and genetic heterogeneity. We present a case report of a 20-year-old male patient with MHID and severe social anxiety. A comprehensive clinical evaluation, including morphotype assessment, cognitive, and psychometric and genetic testing, was conducte ..read more

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView ..read more

Abstract LINS1 is the human homolog of the Drosophila segment polarity gene that encodes an essential regulator of the wingless/Wnt signaling. By 2011, only seven pedigrees (16 patients) with eight causative variants in LINS1 gene have been reported. These cases mainly presented with infancy-/child-onset neurodevelopmental disorders, facial dysmorphia, and other clinical features, and a wide spectrum of clinically distinct phenotypes were also manifested. In our study, two brothers in a family were admitted and diagnosed with child-onset movement disorders, slight intellectual disability, psyc ..read more

Cover legend: Photo credit: Andy Meredith, man with Down syndrome. Andy Meredith Photography, https://andymeredith.com Cover legend: Photo credit: Andy Meredith, man with Down syndrome. Andy Meredith Photography, https://andymeredith.com ..read more

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 196, Issue 1, March 2024 ..read more

Abstract Despite affecting in 1 in every 1000 females, remarkably little is known about trisomy X syndrome (47,XXX), especially among older adults who are undiagnosed. In this study, we aimed to determine the prevalence of 47,XXX among females enrolled in the Million Veterans Program (MVP; mean age 50.2 ± 13.6 years), and compare broad health outcomes between females with 47,XXX and 46,XX matched controls. We identified 61 females with an additional X chromosome, corresponding to a prevalence of 103 per 100,000 females; 27.9% had been clinically diagnosed. Females with 47,XXX had taller statur ..read more

Abstract The National Institutes of Health (NIH) has a long-standing history of support for research in Down syndrome (DS). In response to a 2018 congressional directive for a trans-NIH initiative to address medical issues in DS, NIH launched the INCLUDE Project (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE). Reflecting the three INCLUDE components of basic science research, cohort development, and clinical trials, the Project has published funding opportunities to address conditions such as immune disorders and Alzheimer's disease. Due to a steady e ..read more

Cover legend: Photo credit: Kunal Sharma, a talented photographer with Down syndrome. His website is kunalsklicks.com Cover legend: Photo credit: Kunal Sharma, a talented photographer with Down syndrome. His website is kunalsklicks.com ..read more

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 193, Issue 4, December 2023 ..read more

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 193, Issue 4, December 2023 ..read more