Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2006, 150(1):113-116 | DOI: 10.5507/bp.2006.016

A DUPLICATION dup(4)(q28q35.2) DE NOVO IN A NEWBORN

Iveta Cernakova^a, Marta Kvasnicova^b, Zuzana Lovasova^b, Nora Badova^b, Jiri Drabek^c, Katerina Bouchalova^c, Radek Trojanec^c, ^*Marian Hajduch^c

^a Institute of Biology and Medical Genetics, General Faculty Hospital and The 1st Faculty of Medicine, Charles University, Albertov 4, 128 00 Prague 2, Czech Republic

^b Department of Clinical Genetics, Roosewelt Hospital, 975 15 Banska Bystrica, Slovak Republic

^c Laboratory of Experimental Medicine, Department of Paediatrics, Faculty of Medicine, Palacky University and University

Hospital in Olomouc, Puskinova 6, 775 20 Olomouc, Czech Republic

We report here a case of a newborn with hypotrophy and somatic stigmatization: microcephaly, facial dysmorphism, heart defect and immunodeficiency syndrome. The proband's karyotype was 46,XY,dup(4)(q28q35.2) de novo with chromosomal breaks in 4% of metaphases. We demonstrate the usefulness of a combination of physical examination, classical cytogenetics, FISH and PCR techniques in order to establish correct diagnosis because of overlap of some clinical and cytogenetic features of Nijmegen breakage syndrome (NBS) and duplication 4q in our patient. Although FISH technique detected translocation t(14q;21q) in 4 metaphases, deletion 657del5 in exon 6 of the NBS1 gene associated with NBS in Slavic population was not confirmed. We compare in this report similarity of the clinical picture of our patient, NBS cases and other patients carrying a duplication of the distal part of 4q as described in the literature.

Keywords: Duplication 4q syndrome, Nijmegen breakage syndrome, Cytogenetics, G-band technique, Fluorescence in situ

Received: March 21, 2006; Accepted: April 18, 2006; Published: July 1, 2006  Show citation