一名沙特新生儿的唐氏-克兰费尔特综合征（48,XXY,+21）：病例报告及文献综述

Alallah Jubara, Habhab Sohaib, Mohtisham Farzeen, Shawli Aiman, Daghistani Mustafa

Pediatrics, Neonatology, King Saud Bin Abdulaziz University for Health Sciences College of Medicine, Jeddah, SAU.

Pediatrics, Neonatology, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU.

Cureus. 2022 Apr 28;14(4):e24561. doi: 10.7759/cureus.24561. eCollection 2022 Apr.

Aneuploidy is a category of chromosomal abnormalities involving a numerical abnormality of the chromosomes. The most common type seen in live-born babies is trisomy. Double aneuploidy that leads to trisomy of two different chromosomes occurs due to accidental meiotic nondisjunction events; both can have the same or a different parental origin. Other frequently found double aneuploidies include 48,XXX,+21; 48,XXY,+18, and 48,XXX,+18. Here, we report the case of double aneuploidy (Down-Klinefelter syndrome) in a Saudi newborn with the clinical features of Down syndrome, along with hypothyroidism and congenital heart disease, who was admitted to our neonatal intensive care unit. To our knowledge, this is the first case of its kind reported from the Kingdom of Saudi Arabia.

非整倍体是一类涉及染色体数目异常的染色体异常情况。活产婴儿中最常见的类型是三体性。由于偶然的减数分裂不分离事件，会出现导致两条不同染色体三体性的双非整倍体；两者可能具有相同或不同的亲本来源。其他常见的双非整倍体包括48,XXX,+21；48,XXY,+18和48,XXX,+18。在此，我们报告一例沙特新生儿双非整倍体（唐氏-克兰费尔特综合征）病例，该患儿具有唐氏综合征的临床特征，同时伴有甲状腺功能减退和先天性心脏病，被收入我们的新生儿重症监护病房。据我们所知，这是沙特阿拉伯王国报道的首例此类病例。