Title |
Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities
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Published in |
Molecular Cytogenetics, October 2016
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DOI | 10.1186/s13039-016-0288-y |
Pubmed ID | |
Authors |
Themistoklis Dagklis, Elena Papageorgiou, Elisavet Siomou, Vassilis Paspaliaris, Christina Zerva, Panagiotis Chatzis, Loretta Thomaidis, Emmanouil Manolakos, Ioannis Papoulidis |
Abstract |
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. 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. 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. |
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