| Autor: |
Kübra Aydoğan, Selcan Öztürk, Munis Dündar, Hakan Gümüş, Çetin Saatçi, Hüseyin Per |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
|
| Zdroj: |
The Journal of Pediatric Academy, Vol 4, Iss 4, Pp 149-151 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2718-0875 |
| DOI: |
10.4274/jpea.2023.230 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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