408 kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: A genetic counseling dilemma in paternal carrier status
| Autor: | Marcella Palmisano, Maria Paola Bonasoni, Viola Alesi, Gabriele Tonni, Maria Bellotti, Marta Bertoli |
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| Rok vydání: | 2015 |
| Předmět: |
Embryology
Fetus medicine.medical_specialty medicine.diagnostic_test Obstetrics Genetic counseling Chorionic villus sampling Karyotype General Medicine Biology medicine.disease Pediatrics Perinatology and Child Health medicine Gestation Increased nuchal translucency Developmental Biology Comparative genomic hybridization Tetralogy of Fallot |
| Zdroj: | Congenital Anomalies. 55:65-70 |
| ISSN: | 0914-3505 |
| DOI: | 10.1111/cga.12078 |
| Popis: | Exomphalos may be associated with chromosomal abnormalities and syndromes. Severe exomphalos (herniation of liver, midgut and spleen) associated with increased nuchal translucency was seen at first trimester screening test. Karyotype by chorionic villus sampling showed normal male fetus. Follow up scan at 16 and 18 weeks of gestation confirmed the severe exomphalos and detected micrognathia and tetralogy of Fallot. Array comparative genomic hybridization (a-CGH) further demonstrated a 408 kb 15q11.2 microduplication, with the father-to-be as healthy carrier. This is the first case of an association between 15q11.2 micorduplication and fetal sonographic anomalies. Genetic counseling for estimation of recurrent risk of congenital anomalies is discussed. |
| Databáze: | OpenAIRE |
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