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

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 pedi...

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Bibliographic Details
Main Authors: Kübra Aydoğan, Selcan Öztürk, Munis Dündar, Hakan Gümüş, Çetin Saatçi, Hüseyin Per
Format: Article
Language:English
Published: Galenos Publishing House 2023-12-01
Series:The Journal of Pediatric Academy
Subjects:
Online Access:https://jpediatricacademy.com/index.php/jpa/article/view/230
Description
Summary: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.
ISSN:2718-0875