A Rare Cause of Hypotonia: 49,XXXXX (Pentasomy X)

A Rare Cause of Hypotonia: 49,XXXXX (Pentasomy X)


Abstract views: 185

Authors

  • Kübra Aydoğan Recep Tayyip Erdoğan Training and Research Hospital, Clinic of Pediatrics, Rize, Turkey
  • Selcan Öztürk Erciyes University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Kayseri, Turkey
  • Munis Dündar Erciyes University Faculty of Medicine, Department of Genetics, Kayseri, Turkey https://orcid.org/0000-0003-0969-4611
  • Hakan Gümüş Erciyes University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Kayseri, Turkey https://orcid.org/0000-0001-5896-074X
  • Çetin Saatçi Erciyes University Faculty of Medicine, Department of Genetics, Kayseri, Turkey https://orcid.org/0000-0003-2217-1460
  • Hüseyin Per Erciyes University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Kayseri, Turkey https://orcid.org/0000-0001-9904-6479

DOI:

https://doi.org/10.4274/jpea.2023.230

Keywords:

49,XXXXX, cytogenetic analysis, development delay, hypotonia

Abstract

Pentasomy X syndrome is a very rare sex chromosome numerical anomaly of unknown frequency. The karyotype consists of 49,XXXXX. Musculoskeletal, craniofacial, cardiac, and kidney anomalies accompany psychomotor developmental delays. This report describes, a 16-month-old girl who presented to the pediatric neurology outpatient clinic with complaints of joint laxity and inability to hold her head upright from the age of 3-4 months. The patient exhibited dysmorphic facial features and hand-foot deformities. Genetic consultation was requested, and cytogenetic examination revealed a 49,XXXXX chromosomal anomaly. The most prominent clinical feature of 49,XXXXX patients with pentasomy is severe hypotonia. This article emphasizes the importance of cytogenetic analysis in the evaluation of hypotonicity.

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Published

2023-12-11

How to Cite

Aydoğan, K., Öztürk, S., Dündar, M., Gümüş, H., Saatçi, Çetin, & Per, H. (2023). A Rare Cause of Hypotonia: 49,XXXXX (Pentasomy X): A Rare Cause of Hypotonia: 49,XXXXX (Pentasomy X). The Journal of Pediatric Academy, 4(4), 149–151. https://doi.org/10.4274/jpea.2023.230

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