Τίτλος:
Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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).
Συγγραφείς:
Dagklis, T.
Papageorgiou, E.
Siomou, E.
Paspaliaris, V.
Zerva, C.
Chatzis, P.
Thomaidis, L.
Manolakos, E.
Papoulidis, I.
Περιοδικό:
Molecular Cytogenetics
Εκδότης:
BioMed Central Ltd.
Λέξεις-κλειδιά:
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
DOI:
10.1186/s13039-016-0288-y
