TY  - JOUR
AU  - SEFIANI, ABDELAZIZ
AU  - ZERKAOUI, MARIA
AU  - NATIQ, ABDELHAFID
AU  - SBITI, AZIZA
AU  - LYAHYAI, JABER
AU  - LIEHR, THOMAS
AU  - MERHNI, HANANE
PY  - 2019
DA  - 2019/07/22
TI  - Constitutional Partial Proximal Trisomy 14q11.2 to 14q21: Two New Moroccan Cases and Review of the Literature
JO  - OBM Genetics
SP  - 085
VL  - 03
IS  - 03
AB  - Small supernumerary marker chromosomes (sSMCs), a major problem in clinical cytogenetics, are too small to be characterized for their chromosomal origin by cytogenetic banding techniques. Most sSMCs have not yet been correlated with a specific clinical syndrome, and genotype-phenotype correlation in sSMC-patients is still in major parts under development. In this paper we report two new Moroccan cases with a polymalformative syndrome, in which we identified similar but not identical sSMCs derived from chromosome 14; in one case a +del(14)(q21.1) and in the other a +del(14)(q21.2). To the best of our knowledge, such de novo proximal partial trisomies 14 have previously been reported in only two patients. A comparison of the clinical features of these four cases revealed an expanded clinical spectrum related to this chromosomal aberration; as one case from the literature was associated with gonadal tumor development, similar cases, including the ones here reported, need to be followed up for this condition.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.1903085
DO  - 10.21926/obm.genet.1903085
ID  - SEFIANI2019
ER  -