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

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:
49,xxxxx
cytogenetic analysis
development delay
hypotonia
Online Access:https://jpediatricacademy.com/index.php/jpa/article/view/230

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