Prenatal Diagnosis of 1p34.3 Interstitial Microdeletion by ACGH in a Fetus with Jaw Bone Abnormalities

Overview

Journal Mol Cytogenet

Publisher Biomed Central

Specialty Biochemistry

Date 2016 Oct 8

PMID 27713767

Citations 3

Authors

Themistoklis Dagklis

Elena Papageorgiou

Elisavet Siomou

Vassilis Paspaliaris

Christina Zerva

Panagiotis Chatzis

Loretta Thomaidis

Emmanouil Manolakos

Ioannis Papoulidis

Affiliations

Soon will be listed here.

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.

Citing Articles

MACF1, Involved in the 1p34.2p34.3 Microdeletion Syndrome, is Essential in Cortical Progenitor Polarity and Brain Integrity.

Ka M, Moffat J, Kim W Cell Mol Neurobiol. 2021; 42(7):2187-2204.

PMID: 33871731 PMC: 8523589. DOI: 10.1007/s10571-021-01088-1.

C1orf109L binding DHX9 promotes DNA damage depended on the R-loop accumulation and enhances camptothecin chemosensitivity.

Dou P, Li Y, Sun H, Xie W, Zhang X, Zhang X Cell Prolif. 2020; 53(9):e12875.

PMID: 32761833 PMC: 7507383. DOI: 10.1111/cpr.12875.

Interstitial microdeletion of the 1p34.3p34.2 region.

Jacher J, Innis J Mol Genet Genomic Med. 2018; .

PMID: 29726122 PMC: 6081233. DOI: 10.1002/mgg3.409.

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