How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review

• Main Authors: Miroslaw Wielgos (Author), Przemyslaw Kosinski (Author), Piotr Jedrzejak (Author), Małgorzata Krajewska-Walasek (Author), Magdalena Bartnik-Glaska (Author), Beata Nowakowska (Author), Aleksandra Jezela-Stanek (Author)
• 格式: 圖書
• 出版: Elsevier, 2021-11-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Objective: 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 fa...