唐·克莱恩菲尔特综合征与印度儿童同时出现双重动脉积分
Pradeep Kumar Gunasekaran1, Pooja Jindal1, Tanuja Rajial1
1Pediatrics, All India Institute of Medical Sciences, Jodhpur, Jodhpur, IND.
Cureus
|April 9, 2024
概括
这项研究报告了一例罕见的5个月大的男孩同时患有唐氏综合征 (DS) 和克莱因费尔特综合征 (KS) 的病例. 早期诊断这种双重动脉是遗传咨询和管理患者的结果至关重要的.
科学领域:
- 遗传学 是一个遗传学.
- 人类生物学 人类生物学
- 医学案例报告 病例报告
背景情况:
- 唐氏综合征 (DS) 源于自身体非分裂,而克莱因费尔特综合征 (KS) 则源于性染色体非分裂.
- 同期唐·克莱恩菲尔特综合征 (DS-KS) 异常罕见,全球报告的病例不到70例.
研究的目的:
- 报告一个罕见的婴儿同时患有唐·克莱恩菲尔特综合征 (DS-KS) 的病例.
- 突出早期诊断对于管理双重动脉瘤的重要性.
- 强调需要对患有唐氏综合征表型的婴儿进行染色体分析.
主要方法:
- 对一个五个月大的印度男孩进行临床检查,该男孩表现为未能壮成长和异形特征.
- 型分析以确定患者的遗传构成.
- 对符合DS-KS的临床表现和遗传发现的审查.
主要成果:
- 一个五个月大的男孩被诊断出同时患有唐·克莱因费尔特综合征 (48,XXY+21).
- 患者在出生时表现出暗示唐氏综合征的特征.
- 预计特征性的Klinefelter综合征表型会在婴儿期或青春期晚些时候表现出来.
结论:
- 早期诊断DS-KS对于适当的患者护理,家长咨询和未来怀孕计划至关重要.
- 对于具有典型唐氏综合征表型的婴儿,强烈建议进行染色体分析,以检测潜在的双重动脉.
- 及时诊断对受影响个体的短期和长期结果都有影响,有助于预防复发风险.
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