Balkan Journal of Medical Genetics

A SYSTEMATIC CLINICAL REVIEW OF PRENATALLY DIAGNOSED TETRASOMY 9p
Vinkšel M, Volk M, Peterlin B, Lovrecic L*
*Corresponding Author: Luca Lovrecic, M.D., Ph.D., Assistant Professor, Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Zaloska cesta 002, SI-1000 Ljubljana, Slovenia. Tel: +386-1-522-6057. Fax: +386-1-540-1137. E-mail: luca.lovrecic@kclj.si
page: 11

MATERIALS, METHODS AND DATA SOURCE

Literature Search. A PubMed database search was performed without any publication date or journal restriction with the following key words: tetrasomy 9p, isochro-mosome 9p, mosaic tetrasomy 9p, tetrasomy 9p prenatal, duplication 9p prenatal and trisomy 9p prenatal. All cases describing a prenatally-detected tetrasomy 9p were hand-searched for relevant information with the focus on the gestational age at the time of diagnosis, the type(s) and results of genetic diagnostic tests, ultrasound findings, pregnancy outcome and confirmatory studies. Secondly, we chose the key words trisomy 9p and duplication 9p to divide and compare the severity of the clinical picture, depending on the 9p copy number/gene dosage effect (trisomy 9p vs. tetrasomy 9p). Methodology. In addition to previously reported cases of tetrasomy 9p, we added a prenatally discovered case of tetrasomy 9p at the Clinical Institute of Medical Genetics, University Medical Centre Ljubljana (UMCL), Ljubljana, Slovenia. It was detected using microarray analysis (60K aCGH; Agilent Technologies, Santa Clara, CA, USA), after increased nuchal translucency (NT) of 4.1 mm at the gestational age 12+0 weeks and chorionic villus sampling. Additionally, the GTG banding and FISH analysis with probes Vysis TelVyson 9p SG, TelVyson 9q SO and CEP 9 Saq (Abbott Molecular; Abbott Laboratories, Chicago, IL, USA), were used for confirmation of tetrasomy 9p. Additional anomalies including facial dysmorphism, cleft lip/palate and genitourinary abnormalities were detected with ultrasound at the gestational age 15+1 weeks.

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