포토키-룹스키 증후군 · 희귀질환 · 메디나우 · medinow

포토키-룹스키 증후군 (Potocki-Lupski syndrome)의 공식 지정 정보와 코드, 공개 등록 기준, 질환 설명 및 출처를 확인하세요.

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

출처: Orphanet / INSERM · 2026-06-23 · CC BY 4.0 · 영어 원문, HTML 서식 제거 · 영어 원문