Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata.
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.
Department of Medical Genetics, "Grigore T. Popa" University of Medicine and Pharmacy, Iaşi, Romania.
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Sireteanu
Medical Genetics Center, "Sf. Maria" Children's Hospital, Iaşi, Romania.
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Voloşciuc
Department of Medical Genetics, "Grigore T. Popa" University of Medicine and Pharmacy, Iaşi, Romania.
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Grămescu
Department of Medical Genetics, "Grigore T. Popa" University of Medicine and Pharmacy, Iaşi, Romania.
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Gorduza
Department of Endocrinology, "Grigore T. Popa" University of Medicine and Pharmacy, Iaşi, Romania.
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Vulpoi
Department of Neurology, CF Hospital, Iaşi, Romania.
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Frunză
Department of Medical Genetics, "Grigore T. Popa" University of Medicine and Pharmacy, Iaşi, Romania.
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Rusu
16p11.2 duplication; 18p - syndrome; Holoprosencephaly (HPE); Single nucleotide polymorphism (SNP) array