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Stochholm, K., Holmgård, C., Davis, S.M., Gravholt, C.H. and Berglund, A. (2024) Incidence, Prevalence, Age at Diagnosis, and Mortality in Individuals with 45,X/46,XY Mosaicism: A Population-Based Registry Study. Genetics in Medicine, 26, Article 100987.
https://doi.org/10.1016/j.gim.2023.100987
has been cited by the following article:
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TITLE:
A Boy 45X/46XY Mosaicism with ADHD: A Case Report
AUTHORS:
Hsin-I Wu, Chang-Hsien Yu
KEYWORDS:
45X/46XY Mosaicism, ADHD, Developmental Delay
JOURNAL NAME:
Case Reports in Clinical Medicine,
Vol.13 No.12,
December
17,
2024
ABSTRACT: 45X/46XY mosaicism is a rare chromosome disease. The apparent prevalence of males and females with 45X/46XY is 5.6 and 2.1 per 100,000 liveborn males and females. We present a boy who had a developmental delay with hypospadias. He was referred to pediatric genetics and was diagnosed with 45X/46XY mosaicism by peripheral blood chromosome examination. During serial rehabilitation programs, his speech delay was caught up. But his poor attention and hyperactivity are obvious progressively. We should pay attention to these patients, not only physical conditions but also psychological problems.