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Wielgos M, Kosinski P, Jedrzejak P, et al. How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review. Taiwan J Obstet Gynecol. 2021;60(6):1121-1125doi: 10.1016/j.tjog.2021.09.029.
Wielgos, M., Kosinski, P., Jedrzejak, P., Krajewska-Walasek, M., Bartnik-Glaska, M., Nowakowska, B., & Jezela-Stanek, A. (2021). How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review. Taiwanese journal of obstetrics & gynecology, 60(6), 1121-1125. https://doi.org/10.1016/j.tjog.2021.09.029
Wielgos, Miroslaw, et al. "How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review." Taiwanese journal of obstetrics & gynecology vol. 60,6 (2021): 1121-1125. doi: https://doi.org/10.1016/j.tjog.2021.09.029
Wielgos M, Kosinski P, Jedrzejak P, Krajewska-Walasek M, Bartnik-Glaska M, Nowakowska B, Jezela-Stanek A. How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review. Taiwan J Obstet Gynecol. 2021 Nov;60(6):1121-1125. doi: 10.1016/j.tjog.2021.09.029. PMID: 34794750.
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Taiwan J Obstet Gynecol. 2021 Nov;60(6):1121-1125. doi: 10.1016/j.tjog.2021.09.029.

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

Taiwanese journal of obstetrics & gynecology

Miroslaw Wielgos, Przemyslaw Kosinski, Piotr Jedrzejak, Małgorzata Krajewska-Walasek, Magdalena Bartnik-Glaska, Beata Nowakowska, Aleksandra Jezela-Stanek

Affiliations

  1. 1st Department of Obstetrics and Gynecology, Medical University of Warsaw, Poland. Electronic address: [email protected].
  2. 1st Department of Obstetrics and Gynecology, Medical University of Warsaw, Poland. Electronic address: [email protected].
  3. 1st Department of Obstetrics and Gynecology, Medical University of Warsaw, Poland. Electronic address: [email protected].
  4. 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. Electronic address: [email protected].
  5. Department of Medical Genetics, The Institute of Mother and Child, Warsaw, Poland. Electronic address: [email protected].
  6. Department of Medical Genetics, The Institute of Mother and Child, Warsaw, Poland. Electronic address: [email protected].
  7. Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland. Electronic address: [email protected].

PMID: 34794750 DOI: 10.1016/j.tjog.2021.09.029

Abstract

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 facilitate prenatal guidance by pointing the diagnostic features.

CASE REPORT: 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.

CONCLUSION: 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.

Copyright © 2021. Published by Elsevier B.V.

Keywords: Prenatal diagnosis; Terminal 21q22 deletion; aCGH

Conflict of interest statement

Declaration of competing interest All authors declare no conflict of interest.

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