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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