TY - JOUR
TI - Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities
AU - Dagklis, T.
AU - Papageorgiou, E.
AU - Siomou, E.
AU - Paspaliaris, V.
AU - Zerva, C.
AU - Chatzis, P.
AU - Thomaidis, L.
AU - Manolakos, E.
AU - Papoulidis, I.
JO - Molecular Cytogenetics
PY - 2016
VL - 9
TODO - 1
SP - 1-5
PB - BioMed Central Ltd.
SN - 1755-8166
TODO - 10.1186/s13039-016-0288-y
TODO - adult;  amniocentesis;  Article;  case report;  chromosome 1p;  chromosome analysis;  chromosome deletion;  comparative genomic hybridization;  face malformation;  female;  fetus;  fetus echography;  fetus karyotyping;  gene location;  genetic counseling;  genotype phenotype correlation;  human;  jaw malformation;  micrognathia;  molecular diagnosis;  prenatal diagnosis;  priority journal;  second trimester pregnancy
TODO - Background: Interstitial microdeletions in 1p are extremely rare, as very few cases have been reported postnatally and only one prenatally, yet. There is a variability of phenotypic findings such as hypotonia, facial dysmorphisms, mild microcephaly, with being most common developmental delay. Case presentation: The present case involved a female fetus with an interstitial deletion on 1p, presenting with micrognathia in the 2nd trimester routine ultrasound examination. Array-based comparative genomic hybridization (a-CGH) revealed a 2,7 Mb deletion located on 1p34.3 which could not be detected by standard karyotyping. Conclusions: This is the first prenatal case of an interstitial deletion in 1p34.3 with facial dysmorphism detected by a-CGH. Due to the use of a-CGH techniques submicroscopic imbalances could be detected, and a refined genotype-phenotype correlation could be achieved. © 2016 The Author(s).
ER -