1st Department of Obstetrics and Gynecology, Medical University of Warsaw, Poland.
Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland; Department of Medical Genetics, The Children' Memorial Health Institute, Warsaw, Poland.
Taiwan J Obstet Gynecol. 2021 Nov;60(6):1121-1125. doi: 10.1016/j.tjog.2021.09.029.
Most genetic disorders, especially rare and manifested with an unspecific constellation of developmental anomalies, are challenging to diagnose before birth. The paper aims to present a rare case of terminal 21q22 deletion to extend the knowledge on this rare genetic disease, mostly to facilitate prenatal guidance by pointing the diagnostic features.
The fetus was diagnosed prenatally, at 21 weeks of gestation, due to ultrasound markers detected in a routine ultrasound scan. Post-mortem dysmorphological assessment has verified the diagnosis. To the best of our knowledge, this is the second report of prenatal presentation of partial monosomy 21q.
By giving the detailed phenotype description and presenting a comprehensive literature review on the subject, we delineate its phenotype, which was different from what has been shown in the literature. Specifically, the clinical presentation of aberration within regions 2 and 3 (referring to the term proposed by Lyle et al., in 2009) of 21q22 bands is not characterised by multiple or severe malformations, which matters for prenatal counselling and diagnostics.
大多数遗传疾病，尤其是罕见的且以发育异常的非特异性综合征表现的疾病，在产前难以诊断。本文旨在介绍一例罕见的 21q22 末端缺失病例，以扩展对这种罕见遗传疾病的认识，主要是为了通过指出诊断特征来方便产前指导。
该胎儿在 21 周的常规超声检查中发现了超声标记物，从而在产前被诊断出来。死后的畸形评估证实了该诊断。据我们所知，这是第二例产前部分 21q 单体性的报告。
通过详细描述表型并对该主题进行全面的文献回顾，我们描绘了其表型，与文献中所示的表型不同。具体来说，21q22 带的区域 2 和 3（指 2009 年 Lyle 等人提出的术语）内的畸变的临床表现并不具有多种或严重的畸形，这对产前咨询和诊断很重要。
