RT Journal Article
SR Electronic
A1 Cernakova, Iveta
A1 Kvasnicova, Marta
A1 Lovasova, Zuzana
A1 Badova, Nora
A1 Drabek, Jiri
A1 Bouchalova, Katerina
A1 Trojanec, Radek
A1 Hajduch, Marian
T1 A DUPLICATION dup(4)(q28q35.2) DE NOVO IN A NEWBORN
JF Biomedical papers
YR 2006
VO 150
IS 1
SP 113
OP 116
DO 10.5507/bp.2006.016
UL https://biomed.papers.upol.cz/artkey/bio-200601-0017.php
AB 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.