Yadegari Fatemeh, Abed Aseel Rashid, Abd Ali Widad Yadallah, Al-Abedi Haider Hamza, Zarinfam Shiva, Aminian Solaleh, Majidzadeh-A Keivan
Genetics Department Breast Cancer Research Center, Motamed Cancer Institute, ACECR Tehran Iran.
Warith International Cancer Institute Karbala Iraq.
Clin Case Rep. 2024 Jul 24;12(8):e9176. doi: 10.1002/ccr3.9176. eCollection 2024 Aug.
This study presents a family with nine children, two of them diagnosed with RTS2 using genetic testing. The other siblings show some of the RTS2 criteria and are suggestive of the syndrome. Such reports help physicians be more alert in dealing with cases of rare syndromes. Timely initiation of genetic counseling and testing once the first child was diagnosed with the syndrome could have prevented the birth of affected siblings by RTS2. Since RTS2 patients could have a severe clinical manifestation as osteosarcoma which probably leads to death at a young age, the importance of genetic testing is even more underlined.
本研究介绍了一个有九个孩子的家庭，其中两个孩子经基因检测被诊断为RTS2。其他兄弟姐妹表现出一些RTS2标准，提示可能患有该综合征。此类报告有助于医生在处理罕见综合征病例时提高警惕。一旦第一个孩子被诊断出患有该综合征，及时开展遗传咨询和检测，本可避免RTS2患儿的出生。由于RTS2患者可能会出现骨肉瘤等严重临床表现，很可能在年轻时导致死亡，这就更凸显了基因检测的重要性。
