REPORT OF A NEW CASE WITH PENTASOMY X AND NOVEL CLINICAL FINDINGS
Demirhan O, Tanriverdi N, Yilmaz MB, Kocaturk-Sel S, Inandiklioglu N, Luleyap U, Akbal E, Comertpay G,Tufan T, Dur O
*Corresponding Author: Professor Dr. Osman Demirhan, Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, 01330 Saricam, Adana, Turkey. Tel: +90-322-338-7140. Fax: +90-322- 338-6572. E-mail: osdemir@cu.edu.tr
page: 85

INTRODUCTION

Pentasomy X is a very rare chromosome abnormality. The exact prevalence is unknown, and was first described by Kesaree and Wooley [1]. Approximately, 25 cases have so far been reported in the literature [2], although it is believed that there are probably many more who have never been diagnosed. Pentasomy X is associated with developmental delays, short stature, craniofacial anomalies (microcephaly, micrognathia, plagiocephaly, hypertelorism, up-slanting palpebral fissures, a flat nasal bridge and ear malformations), musculoskeletal abnormalities and cardiovascular malformations. The hands and feet are generally small with common findings of camptodactyly, clinodactyly and radioulnar synostosis. Immunoglobulin anomalies and increased susceptibility to infection have also been reported in such cases. External genitalia are generally normal but gonadal dysfunction has been reported. The majority of polysomies are due to double non disjunction in oogenesis. The addition of more than one extra sex chromosome occurs rarely, and information in the literature is generally limited to isolated case reports. In this study, we present an infant with a 49,XXXXX chromosome and novel clinical findings of pentasomy X. This case gave us the opportunity to study the effects of pentasomy X syndrome on phenotype.



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