XYY 증후군 (XYY Syndrome) : 희귀난치성 유전질환

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목차

DEFINITION : 정의
DIFFERENTIAL DIAGNOSIS : 감별 진단
SYMPTOMS AND SIGNS : 증상과 징후
ETIOLOGY / EPIDEMIOLOGY 병인학 / 역학
DIAGNOSIS : 진단
TREATMENT : 치료
참고문헌

본문내용

XYY 증후군 (XYY Syndrome)
DEFINITION
XYY Syndrome (47, XYY) is a common cause of learnig disabilities in males. It is characterized by the presence of an additional Y or several Y chromosomes along with the normal male complement of XY.
정의
XYY (47, XYY) 증후군은 남성에게서 학습 장애의 원인이 공통이다. 그것은 추가적인 Y 의 존재 또는 XY의 정상 남성 보체에 더해진 몇 개의 Y 염색체의 특징이 있다.

DIFFERENTIAL DIAGNOSIS
Klinefelter syndrome ; marfan syndrome ; Sotos syndrome ; Fragil X syndrome.
감별 진단
클라인펠터 증후군 ; 마르판 증후군 ; 소토스 증후군 ; 유약 X 증후군.

SYMPTOMS AND SIGNS
A common feature of this disorder is increased height, with a mean height of 187.2cm. No significant abnormal physical feature are associated whit XYY syndrome. Normal intelligence is typical, with IQ approximately 10 to 15 points less then siblings. Decreased muscle tone with learning problems and mild developmental delay occur as early as infancy. Motor dysfunction is evident within the first year of life. Speech delay is evident by 18 months and may be detected as early as 12 months. These children are very responsive to early intervention and treatment. Attention issues and increased activity level are present. Reading differences are common with an increased of dyslexia. Aggression can occur in some patients, but is related to language/learning issues and impulsivity. Variants include 48, XYYY or 49, XYYYY and simiar neurodevelopmental profile. Mosaic forms (46, XY/47, XYY) of this disorder are consistently associated with milder symptoms and fewer learning issues.

참고 자료

Robinson A, Bender BG, Linden MG, Prognosis of prenatally diagnosed children with sex chromosome aneuploidy. Am j Med Genet 1992;44:365-368.
Salbenblatt JA, Meyers DC, Bender BG, et al. Gross and fine motor development in 47,XXY males, Pediatrics 1987;80:240-244.