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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INTRODUCTION
Monosomy 18p was first reported in 1963 by de
Grouchy et al. [1] and has an incidence of 1:50,000
live-born infants [2]. About two-thirds of cases are
de novo deletions, one-sixth are due to de novo translocations
between the long arms of an acrocentric
and 18q, and the rest come from familial translocations,
inversions, complex translocations or direct
transmission [3]. The main clinical features of monosomy
18p are mild to moderate intellectual disability
(ID), postnatal growth retardation, and dysmorphic
features including ptosis, hypertelorism, strabismus,
broad flat nose, micrognathia, and low-set large ears
[4]. We report on a girl with ID, mild dysmorphic
face and masculine body habitus who had a de novo
14;18 translocation. Copy number analysis with single
nucleotide polymorphism (SNP) array detected
a terminal deletion flanked by a duplication on 18p
and a duplication of 16p11.2.
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