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
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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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