Naslov
De novo case of a partial tetrasomy 16p

Autori
Škrlec, Ivana ; Pušeljić, Silvija ; Lovrečić, Luca ; Peterlin, Borut ; Wagner, Jasenka

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Chromosome Research / - , 2015

Skup
10th European Cytogenetic Conference

Mjesto i datum
Strasbourg, Francuska, 04.07.2015. - 07.07.2015

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
DNA microarray ; tetrasomy ; chromosome 16

Sažetak
Chromosome 16p duplication has been observed in number of individuals, but tetrasomy of chromosome 16p has not been reported. Duplication 16p is usually observed as a part of complex syndromes among families with structural chromosomal rearrangements. Described duplications of the proximal 16p arm vary from small, interstitial duplications to whole arm duplications. The phenotype of individuals with duplication varies from normal to severe, depending on the size of the duplication and potential additional chromosomal rearrangement. Here we present the clinical and cytogenetic findings in a 6-year-old female referred for genetic evaluation because of psychomotor delay and dysmorphic features, including low set ears, long philtrum, gothic palate, wide spaced nipples, clinodactyly and epileptic seizures. Cytogenetic examination of GTG banded metaphases showed a female karyotype with additional material on the short arm of chromosome 16. Extended molecular cytogenetic analysis (arrayCGH) showed female molecular karyotype with four copies of the 16p13.11p11.2 region. Size of the amplification is 11.8±0.1 Mb. The proband’s karyotype can be reported as: 46, XX, add(16)dn.arr[hg19]16p13.11p11.2(16, 525, 28 9-28, 318, 164)x4. Proband’s parents have normal karyotypes. The size and boundaries of structural chromosome anomalies arising de novo are usually difficult to define, based only on classical cytogenetic analysis, due to its limited resolution. We have compared the clinical features of our proband to other patients carrying a duplication of proximal part of 16p as described in the literature. Four copies of genes on chromosome 16p11.2-p13.11 seem to result in greater developmental disturbance than are reported in patients with three doses of the same genes. This is supported by animal model as well, where research on mice showed that tetrasomy of chromosome 16 had much more deleterious effects on embryonic development than did trisomy of the same chromosome.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA