Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis
| Autor: | I. Tillous‐Borde, A. Azancot, C. Dupont, A. Fuentes‐Duarte, Anne Bazin, Suonavy Khung-Savatovsky, Azzedine Aboura, Anne-Lise Delezoide, Fabien Guimiot |
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| Rok vydání: | 2012 |
| Předmět: |
Heart Septal Defects
Ventricular Pathology medicine.medical_specialty Karyotype Prenatal diagnosis Biology Polymorphism Single Nucleotide Young Adult Pregnancy Prenatal Diagnosis Genetics medicine Humans Cardiac Surgical Procedures In Situ Hybridization Fluorescence Genetics (clinical) Fetus Maternal Transmission Tricuspid valve Interrupted aortic arch type A Anatomy Microarray Analysis medicine.disease GATA4 Transcription Factor Phenotype medicine.anatomical_structure cardiovascular system Atrioventricular canal Gestation Female Tricuspid Valve Chromosome Deletion Gene Deletion Chromosomes Human Pair 8 Follow-Up Studies Genome-Wide Association Study |
| Zdroj: | American Journal of Medical Genetics Part A. 161:208-213 |
| ISSN: | 1552-4825 |
| Popis: | We report on the first prenatally diagnosed interstitial 8p23.1 maternally inherited deletion. At 20 weeks of gestation (WG) the fetus was diagnosed with a complete atrioventricular canal. In infancy, the mother underwent a two-step cardiac surgery for an interrupted aortic arch type A associated to an inlet ventricular septal defect (VSD). A straddling of the tricuspid valve type B was confirmed during surgery. The outcome showed no cardiac failure or conduction anomalies. However, she presented with moderate intellectual disability. Classical and molecular cytogenetic studies on amniotic and maternal lymphocytes cells showed a nearly identical interstitial deletion of the 8p23.1 region encompassing the GATA4 gene locus (Mother: nt 6,913,337-12,580,828, fetus: nt 7,074,449-12,580,828) with no modification of the telomeric region. The relevance of our report is not only the maternal syndromic interstitial 8p23.1 deletion, but also maternal transmission which has never been reported before. The maternal and fetal phenotypes were not identical, however, even though they had the same cellular and molecular background: an alteration of the epithelial mesenchymal transition of the atrioventricular valvulo-septal complex where GATA4 plays a positive role in the regulation. We reviewed all cases of interstitial 8p23.1 deletions diagnosed either prenatally or postnatally. |
| Databáze: | OpenAIRE |
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