A Boy 45X/46XY Mosaicism with ADHD: A Case Report  

作　　者：Hsin-I Wu Chang-Hsien Yu Hsin-I Wu;Chang-Hsien Yu(Department of Physical Medicine and Rehabilitation, Taitung MacKay Memorial Hospital, Taitung City;Department of Pediatrics, Taitung MacKay Memorial Hospital, Taitung City)

机构地区：[1]Department of Physical Medicine and Rehabilitation, Taitung MacKay Memorial Hospital, Taitung City [2]Department of Pediatrics, Taitung MacKay Memorial Hospital, Taitung City

出　　处：《Case Reports in Clinical Medicine》2024年第12期566-571,共6页临床医学病理报告(英文)

摘　　要：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.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.

关 键 词：45X/46XY Mosaicism ADHD Developmental Delay 

分 类 号：R36[医药卫生—病理学]