Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound
| Autor: | Liang-Kai Wang, Tung-Yao Chang, Chen-Chi Lee, Yen-Ni Chen, Chien-Wen Yang, Peih-Shan Wu, Pei-Chen Wu, Wayseen Wang, Chih-Ping Chen, Shin-Wen Chen, Schu-Rern Chern |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Adult
0301 basic medicine Umbilical Veins chromosome 11q deletion Gestational Age Vena Cava Inferior Prenatal diagnosis lcsh:Gynecology and obstetrics Ultrasonography Prenatal Hypoplastic left heart syndrome Jacobsen syndrome congenital heart defect 03 medical and health sciences 0302 clinical medicine Pregnancy Double outlet right ventricle Obstetrics and Gynaecology Hypoplastic Left Heart Syndrome medicine Humans Abnormalities Multiple Jacobsen Distal 11q Deletion Syndrome In Situ Hybridization Fluorescence lcsh:RG1-991 Comparative Genomic Hybridization Fetal Growth Retardation Single umbilical artery business.industry Chromosomes Human Pair 11 Obstetrics and Gynecology Anatomy medicine.disease Double Outlet Right Ventricle 030104 developmental biology Karyotyping Agenesis Female Chromosome Deletion business 030217 neurology & neurosurgery Ductus venosus Ductus Venosus Agenesis |
| Zdroj: | Taiwanese Journal of Obstetrics & Gynecology, Vol 56, Iss 1, Pp 102-105 (2017) |
| ISSN: | 1028-4559 |
| Popis: | Objective We present molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle (DORV), hypoplastic left heart syndrome (HLHS), and ductus venosus (DV) agenesis on prenatal ultrasound. Case Report A 26-year-old woman underwent prenatal ultrasound examination at 22 weeks of gestation, which revealed intrauterine growth restriction, short femurs, DORV, HLHS, DV agenesis, single umbilical artery, and curly fourth toe of the left foot. The parents elected to terminate the pregnancy, and a 500-g female fetus was delivered at 23 weeks of gestation with facial dysmorphism, bilateral camptodactyly, and hammertoes. The parental karyotypes were normal. Cytogenetic analysis of the cord blood and umbilical cord revealed a karyotype of 46,XX,del(11)(q23). Array comparative genomic hybridization analysis of the DNA extracted from the umbilical cord revealed a 14.38-Mb deletion of 11q23.3-q25 encompassing BSX , ETS1 , FLI1 , and ARHGAP32 . Metaphase fluorescence in situ hybridization analysis using the probes RP11-209L12 (11q25) and RP11-25M7 (11q11) showed a distal 11q deletion in the aberrant chromosome 11 in 17/17 cells examined. Conclusion Prenatal diagnosis of DORV, HLHS, DV agenesis associated with intrauterine growth restriction and short limbs should include a differential diagnosis of Jacobsen syndrome. |
| Databáze: | OpenAIRE |
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