TY  - JOUR
AU  - Sefiani, Abdelaziz
AU  - Zerkaoui, Maria
AU  - Natiq, Abdelhafid
AU  - Sbiti, Aziza
AU  - Liehr, Thonas
AU  - Merhmi, 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  - Background: A report of two new Moroccan cases with polymalformative syndrome, in which we identified similar but not identical sSMCs derived from chromosome 14.
Methods: Conventional karyotype and MULTI-FISH.
Results: +del(14)(q21.1) in the first case and +del(14)(q21.2) in the second.
Conclusions: Constitutional partial trisomy 14 has an expanded clinical spectrum as one case from the literature was associated with gonadal tumor development. Similar cases, including the ones reported here, need to be carefully 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  -