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

INTRODUCTION

Tetrasomy 9p is a rare chromosomal abnormality characterized by the presence of four copies of the short p arm of chromosome 9. Occasionally, a minute portion of the long q arm is duplicated as well. The common mechanism associated with formation of tetrasomy 9p seems to be meiosis II non disjunction of maternal origin, followed by meiotic or postmeiotic mitotic misdivision or recombination leading to duplication with subsequent loss of the q arm of chromosome 9 [1]. Tetrasomy 9p was first described by Ghymers et al. [2] in 1973 in a child with multiple abnormalities, where classic karyotype analysis revealed tetrasomy 9p in lymphocytes, but not in fibroblasts. The first prenatal case of tetrasomy 9p was published by Schaefer et al. [3] in 1991, where the chromosomal abnormality was detected in cord blood lymphocytes in a fetus with multiple anomalies, including dolichocephaly with hydrocephalus, possible spinal dysraphism, absent kidneys and bladder, severe oligohydraminos and intrauterine growth retardation. Especially in the later years, the detection rate of tetrasomy 9p increased with better fetal monitoring and more accessible prenatal diagnostics. Fourteen cases were reported in last 3 years [4-7], detected using microarrays in comparison with 53 cases reported from 1973 to 2015 using GTG banding and/or fluorescent in situ hybridization (FISH), analysis [1-3,8-52]. The objective of this review was to highlight the importance of early fetal ultrasound screening in identifying rare chromosomal abnormalities and to present the array comparative genomic hybridization (aCGH) as a valuable clinical diagnostic tool that allows rapid and precise identification of chromosomal abnormalities. The purpose of this study was a comprehensive review of the literature regarding prenatal tetrasomy 9p syndrome with comparison of fetal abnormalities seen in different stages of fetal development. In addition, the comparison of mosaic vs. non mosaic forms of tetrasomy 9p is presented, with the focus on the differences in the clinical presentation between both groups, correlation of the level of mosaicism with the phenotype and diagnostic challenges related to mosaic cases.

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