@article{3087200,
    title = "Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities",
    author = "Dagklis, T. and Papageorgiou, E. and Siomou, E. and Paspaliaris, V. and Zerva, C. and Chatzis, P. and Thomaidis, L. and Manolakos, E. and Papoulidis, I.",
    journal = "Molecular Cytogenetics",
    year = "2016",
    volume = "9",
    number = "1",
    pages = "1-5",
    publisher = "BioMed Central Ltd.",
    issn = "1755-8166",
    doi = "10.1186/s13039-016-0288-y",
    keywords = "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",
    abstract = "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)."
}