Balkan Journal of Medical Genetics

16p SUBTELOMERIC DUPLICATION WITH VASCULAR ANOMALIES: AN ALBANIAN CASE REPORT AND LITERATURE REVIEW
Babameto-Laku A1,*, Mokini V1, Kuneshka N2, Sallabanda S3, Ylli Z1
*Corresponding Author: Assistant Professor Anila Babameto-Laku, Service of Medical Genetics, University Hospital Center “Mother Teresa”, Faculty of Medicine, Tirana, Albania, Rr. e Dibres 370, Tirana, Albania; Tel.: +(355)-68-20-94-170 (mobile); Fax: +355-4-227-2782; E-mail: laku62@yahoo.com
page: 73

INTRODUCTION

Partial trisomy 16p is a rare chromosome imbalance characterized by mental retardation, prenatal and postnatal growth deficiency, facial anomalies, cleft palate, congenital heart defect and urogenital anomalies [1-8]. The majority of the patients present chromosome duplications recognizable by standard cytogenetic techniques. Previous studies have established that the phenotypic severity could not be correlated with the size of the duplicated segment, and that region 16p13.1-p13.3 was ‘critical’ in determining this disorder. Subtelomere analysis has also identified submicroscopic duplications of the subterminal region of chromosome 16p (dup16p) [7-10]. We report on a patient with karyotype 46,XY,der(4) recognized by standard cytogenetic techniques, in whom subtelomeric analysis by the multiplex ligation- dependent probe amplification (MLPA) technique demonstrated a de novo duplication of the subtelomeric anomalies in chromosome 16p and chromosome 4q. We believe this is the first confirmed case of 16p subtelomeric duplication with vascular anomalies identified in Albania.

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