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 download article in pdf format
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Abstract
Pentasomy X is an extremely rare sex chromosome
abnormality, a condition that only affects
females, in which three more X chromosomes are
added to the normally present two chromosomes in
females. We investigated the novel clinical findings in
a 1-year-old female baby with pentasomy X, and determined
the parental origins of the X chromosomes.
Our case had thenar atrophy, postnatal growth deficiency,
developmental delay, mongoloid slant, microcephaly,
ear anomalies, micrognathia and congenital
heart disease. A conventional cytogenetic technique
was applied for the diagnosis of the polysomy X, and
quantitative fluorescent polymerase chain reaction
(QF-PCR) using 11 inherited short tandem repeat
(STR) alleles specific to the chromosome X for the
determination of parental origin of X chromosomes.
A cytogenetic evaluation revealed that the karyotype
of the infant was 49,XXXXX. Comparison of the
infant’s features with previously reported cases indicated
a clinically recognizable specific pattern of
malformations referred to as the pentasomy X syndrome.
However, to the best of our know-ledge, this
is the first report of thenar atrophy in a patient with
49,XXXXX. The molecular analysis suggested that
four X chromosomes of the infant originated from
the mother as a result of the non disjunction events
in meiosis I and meiosis II. We here state that the
clinical manifestations seen in our case were consistent
with those described previously in patients
with pentasomy X. The degree of early hypotonia
constitutes an important early prognostic feature in
this syndrome. The pathogenesis of pentasomy X is
not clear at present, but it is thought to be caused by
successive maternal non disjunctions.
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