Balkan Journal of Medical Genetics

REPORT OF A NEW CASE WITH PENTASOMY X AND NOVEL CLINICAL FINDINGS
Demirhan O, Tanriverdi N, Yilmaz MB, Kocaturk-Sel S, Inandiklioglu N, Luleyap U, Akbal E, Comertpay G,Tufan T, Dur O
*Corresponding Author: Professor Dr. Osman Demirhan, Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, 01330 Saricam, Adana, Turkey. Tel: +90-322-338-7140. Fax: +90-322- 338-6572. E-mail: osdemir@cu.edu.tr
page: 85

MATERIALS AND METHODS

Case Report. She was born by Cesarean section during the 32nd gestational week as a result of premature membrane rupture. The infant was a 1-yearold girl, the fourth child of healthy related parents (mother aged 31, father 45). Her birth weight was unknown. Her current weight was 8000 g, length was 66 cm (25th percentile), and head circumference was 43 cm (75-90th percentile). Her siblings were healthy and developed normally. The infant was admitted to the inpatient clinic at the Department of Pediatrics, Çukurova University, Faculty of Medicine, Adana, Turkey, with a history of cough and fever for 20 days. Her physical examination revealed that she had a body temperature of 39 °C, a pulse rate of 128 beats/min. and a blood pressure of 100/60 mm/Hg. She had tachypnea and dyspnea with oxygen saturation of 88.0% in room air. Auscultation of chest revealed bilateral crepitations and the cardiovascular examination revealed 3/6 systolic murmur. Palpable hepatomegaly was present in the abdomen. The neurological examination was notable for diffuse hypotonia, tongue fasciculations and absent deep tendon reflexes. She also had oblique eye fissures, upward ears, thenar atrophy and normal external genitalia. Initial laboratory tests showed a white blood cell (WBC) count of 16.0 × 109/L with 50.0% neutrophils, 42.0% lymphocytes, 4.0% monocytes, 4.0% eosinophils, a platelet count of 257.0 × 109/L, a red blood cell (RBC) count of 3.7 × 1012/L, procalcitonin concentration of 24 ng/ml, an alanine aminotransferase (ALT) level of 21 U/L, a creatinine phospokinase (CPK) level of 36 U/L and a creatinine concentration of 0.41 mg/dL. Her venereal diseases research laboratory (VDRL), cytomegalovirus, rubella, and toxoplasma tests were negative. The pediatric cardiology department of our hospital evaluated the patient. Transthoracic echocardiography revealed patent ductus arteriosus and a mild pulmonary hypertension so the patient was treated with captopril and furosemide drugs. The child also had pneumonia and was given antibiotics for 10 days. The pediatric neurology department evaluated the patient. According to her neurological findings and physical examination, spinal muscular atrophy was suspected, but genetic testing could not be performed to confirm the clinical diagnosis. The patient was discharged after 10 days of treatment. The child will regularly attend the pediatric cardiology and neurology polyclinic follow-up (Figure 1). Cytogenetic Analysis. The diagnosis of the infant was made on the basis of a chromosomal analysis at the Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey. Standard cytogenetic procedures were performed for the analysis of metaphase chromosomes from peripheral blood samples. Standard techniques for the cultivation of lymphocytes from peripheral blood were used and the preparations were treated with trypsin to obtain G-banding. The analyses were performed on ≥50 cells. Karyotype analyses were as per International System for Human Cytogenetic Nomenclature (ISCN) (2005) standards. Molecular Analysis. DNA was extracted from blood samples of the baby and her parents using InstaGene™ Matrix (Bio-Rad Laboratories, Hercules, CA, USA) according to the manufacturer’s instructions. Quantitative fluorescent-polymerase chain reaction (QF-PCR) amplifications were performed employing Aneufast™ (Molgentix SL, Barcelona, Spain) trisomy detection kit that includes fluorescently labeled primers for the 35 predefined short tandem repeat (STR) marker sites for chromosomes 13, 18, 21, X and Y, and primer pairs for amelogenin (AMXY) (specific to X and Y chromosomes) and sex-determining region Y (SRY) (specific to Y chromosome) regions. The kit also contains deoxynucleotide triphosphates (dNTPs) and Hot Start Taq DNA polymerase in an optimized reaction buffer. Two μL of the DNA (5-10 ng) and 3 μL of PCR-grade water were added to 10 μL of each of the master mixes. After the initial denaturation at 95 °C for 15 min., amplification was followed by 28 cycles at 95 °C for 40 seconds, 58 °C for 80 seconds and 72 °C for 40 seconds and final extension was 30 min. at 60 °C. The QF-PCR products (1.5 μL from each mix) were collected in 20 μL Hi-Di™ Formamide (Applied Biosystems, Foster City, CA, USA) containing 0.3 μL of GeneScan™ –500 LIZ™ (Applied Biosystems) size standard. After denaturation at 95 °C for 3 min., the mixture was allowed to cool down to 4 °C and then capillary electrophoresis was carried out on an ABI PRISM™ 3130 Genetic Analyzer using POP7 polymer (Applied Biosystems). Analysis of the results and calculation of the peak areas were performed using GeneMapper 4.0 software (Applied Biosystems). Origin of the Aneuploidy. The parental origin of the aneuploidy was revealed by comparing of the STR alleles of the baby with that of her mother and father. The meiotic division errors that occurred either in meiosis I or meiosis II, was inferred on the basis of non reduction/reduction stage of the chromosome by comparing the proximal (peri-centromeric) markers. If parental heterozygosity was retained in the aneuploidic child, it is concluded that the error occurred during meiosis I, and if parental heterozygosity was reduced to homozygosity in the child, it is concluded that the error occurred during meiosis II or post-zygotic mitosis. Mitotic errors were distinguished from meiosis II by evaluating medial and distal markers. If the individual was reduced to homozygosity at all informative loci, including at least one each in proximal, medial, and distal portions of the chromosome, a post-zygotic origin was inferred. If the individual was not reduced to homozygosity at one or more loci, the error was assigned to meiosis II [3-6].

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