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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RESULTS
The cytogenetic G-banding revealed an unbalanced
translocation between chromosomes 14 and 18
(Figure 3). The C-banding showed two centromeres
on the derivative chromosome; in all metaphases
examined the 14 chromosome centromere was inactivated
(Figure 4). Thus, the karyotype was 45,XX,psu
dic(14;18)(p11.1;p13.1). The parental karyotypes
were normal. The SNP array analysis detected a
terminal deletion of approximately 10.24 Mb, from
18p11.32 to 18p11.22 (274-10,242,742), flanked by a
duplication of approximately 1.15 Mb, from 18p11.22
to 18p11.21 (10,249,343-11,401,062) (Figure 5). In
addition, the SNP array revealed a duplication of
516,590 bp in 16p11.2 (29,568,718-30,085,308). The
relatively small size of the duplications did not allow
for fluorescent in situ hybridization (FISH) to
determine the orientation. Blood samples from the
parents were not available for SNP array analysis.
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