TY  - JOUR
AU  - Bayanbold, Khaliunaa
AU  - Tolbanen, Noel
AU  - Bernat, John
AU  - Nagy, Jaime
PY  - 2024
DA  - 2024/03/05
TI  - Mosaic Potocki-Lupski Syndrome Due to a Supernumerary Marker Chromosome Containing <i>RAI1</i>
JO  - OBM Genetics
SP  - 220
VL  - 08
IS  - 01
AB  - Potocki-Lupski syndrome (PTLS) is a recurrent microduplication syndrome characterized by developmental delay, behavioral abnormalities, mildly dysmorphic facial features, hypotonia, and sleep disorders. We report here a 3-year-old girl diagnosed with mosaic PTLS harboring a supernumerary marker chromosome containing the RAI1 (retinoic acid induced 1) gene. Cytogenetic testing, including chromosomal microarray, karyotype, and FISH analysis, identified a ring chromosome containing portions of chromosomes 14 and 17 in 85% of cells. Clinical features of this individual included atypical facies with frontal bossing, bitemporal narrowing, prominent cupped ears, and mild speech delay. Presented here is a novel case of PTLS associated with mosaic gains of chromosomes 14 and 17. As small supernumerary marker chromosomes (sSMCs) involving non-acrocentric chromosomes are rare, this case contributes to our understanding of phenotypic spectrum associated with sSMC(17).
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2401220
DO  - 10.21926/obm.genet.2401220
ID  - Bayanbold2024
ER  -