DICENTRIC CHROMOSOME 14;18 PLUS TWO
ADDITIONAL CNVs IN A GIRL WITH MICROFORM
HOLOPROSENCEPHALY AND TURNER STIGMATA
Sireteanu A1, Voloşciuc M2, Grămescu M1, Gorduza EV1, Vulpoi C3, Frunză I4, Rusu C1,*
*Corresponding Author: Cristina Rusu, M.D., Ph.D., “Grigore T. Popa” University of Medicine and Pharmacy,
Medical Genetics Department, Stradă Universităţii 16, Iaşi 700115, Romania; Tel./Fax: +40-232-272-754;
Mobile: +40-745-432-077; E-mail address: abcrusu@gmail.com
page: 67
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Abstract
We report a 20-year-old female with features
evocative of Turner syndrome (short stature, broad
trunk, mild webbed neck), dysmorphic face, minor
features of holo-prosencephaly (HPE), small hands
and feet, excessive hair growth on anterior trunk and
intellectual disability. Cytogenetic analysis identified
a pseudodicentric 14;18 chromosome. Genome wide
single nucleotide polymorphism (SNP) array showed
a terminal deletion of approximately 10.24 Mb, from
18p11.32 to 18p11.22, flanked by a duplication of
approximately 1.15 Mb, from 18p11.22 to 18p11.21.
In addition, the SNP array revealed a duplication of
516 kb in 16p11.2. We correlated the patient’s clinical
findings with the features mentioned in the literature
for these copy number variations. This case study
shows the importance of microarray analysis in the
detection of cryptic chromosomal rearrangements
in patients with intellectual disability and multiple
congenital anomalies.
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