Balkan Journal of Medical Genetics

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

MATERIALS AND METHODS

Case Report. The patient is a 20-year-old female, the first child of non consanguineous, healthy Caucasian parents (mother was 24 years old and father was 27 years old when the proband was born). There was no family history of ID, congenital anomalies or psychiatric disorders. The pregnancy was uneventful; she was born at term by normal delivery with a birth weight of 2,200 g (below the 3rd percentile), length and head circumference were not recorded. All developmental milestones were delayed: she achieved head control at 6 months, walked without support at 2 years, spoke first clear words at 1.5 years. The girl was referred for genetic evaluation at the age of 5.5 year old, due to ID and single central maxillary incisor. Her growth parameters were: height 95.5 cm [-3.68 standard deviation (SD)], weight 13 kg (-2.48 SD), and head circumference 47 cm (-2.76 SD). She had a triangular face, horizontal palpebral fissures, blue sclera, short, slightly protruding philtrum and upper lip, blunted Cupid’s bow, slightly everted lower lip, mild microretrognathia, bilateral preauricular sinus (Figure 1). Oral cavity examination showed absent maxillary and mandibular frenulum and single central maxillary incisor. Her language was limited to single words (she could not produce sentences). She had nocturnal and diurnal enuresis, for which she received therapy. No hearing impairment has been identified. Echocardiography showed an atrial septal defect. Abdominal ultrasound, routine biochemical and hematological tests, endocrine investigations [growth hormone (GH), free thyroxine (T4), thyroid-stimulating hormone (TSH)] were normal. No metabolic tests have been performed. Cranio-cerebral computed tomography (CT) scan and magnetic resonance imaging (MRI) of the spine did not show any changes. When examined at the age of 20, her height was 147 cm (-2.89 SD), weight was 43 kg [-1.76 SD, body mass index (BMI) 19.9 kg/m2), and head circumference was 53 cm (-1.75 SD). We have noticed her standing and walking position (leaning slightly forward, with widened base of support), as well as slowness in motion and action. The face became elongated, mature for age, with slightly coarse features (Figure 2). She had mild webbed neck, broad chest and narrow hips, normal posterior hairline, kyphoscoliosis, pectus excavatum, short and wide hands and feet (below the 3rd percentile), with mild brachydactyly. Puberty was normal, but she developed asymmetric mammary glands and excessive hair growth in pre-sternal, circumareolar and subumibilical regions (Ferri-man-Gallwey score of 2). Psychological testing established a moderate ID (IQ 45), with impaired speech and language skills, difficulties with interpersonal relationships and oppositional behavior. She presented giggle incontinence. Endocrine investigations were as follows: normal levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol, prolactin, elevated plasmatic levels of testosterone, dehydroepiandrosterone (DHEA)-sulfate, and 17-hyroxyprogesterone (OH). Cytogenetic Studies. The chromosome analysis was performed for the patient and her parents using the G-banding technique on metaphase chromosomes from peripheral blood lymphocytes, according to standard protocol. Chromosome C-banding was performed by the standard BSG (barium hydroxide/ saline solution/Giemsa) method [5] with slight modifications. Single Nucleotide Polymorphism Array. Genomic DNA was purified from peripheral blood using Wizard Genomic DNA Purification Kit (Promega Corp., Madison, WI, USA). The SNP array was performed using Human CytoSNP-12 v2.1 BeadChip platform (Illumina Inc., San Diego, CA), containing approximately 300,000 SNPs per sample, according to the manufacturer’s instructions. The data were processed using Genome Studio V2010.1 software (Illumina). Genomic positions were defined according to the GRCh37/hg19 Assembly of the Human Genome (February 2009).

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