Prenatal molecular cytogenetic analysis of a mild dysmorphic fetus with a huge unbalance karyotype involving partial 9p deletion and partial 18q duplication
| Autor: | Yueh-Chun Li, Yi Ju Pan, Chyi Chyang Lin, Fuu Jen Tsai |
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| Rok vydání: | 2015 |
| Předmět: |
0301 basic medicine
Genetics Fetus Pathology medicine.medical_specialty medicine.diagnostic_test Karyotype Prenatal diagnosis 030105 genetics & heredity Biology Biochemistry 03 medical and health sciences Retrognathia Chromosomal region Gene duplication medicine Hypertelorism medicine.symptom Molecular Biology Fetal echocardiography |
| Zdroj: | Genes & Genomics. 38:53-57 |
| ISSN: | 2092-9293 1976-9571 |
| Popis: | Partial 9p deletion syndrome and partial 18q duplication syndrome each have distinct clinical features. We describe the prenatal molecular cytogenetic analysis of a de novo unbalanced karyotype with deletion of 9p23-pter and duplication of 18q12.2-qter in a mild dysmorphic female fetus. Fetal ultrasonography was performed and detailed karyotype analyses were conducted using a combination of G-banding, SKY analysis and FISH with chromosome arm specific sub-telomeric DNA probes and chromosomal region specific BAC clone probes. The fetal sonography and fetal echocardiography at 17 weeks’ gestation did not reveal any anomaly while the fetus had a large unbalance karyotype of 46,XX,der(9)t(9;18) (p23;q12.2) de novo. Its external phenotype at 21 weeks appeared to have some mild dysmorphic features including hypertelorism, low-set ears, micrognathia/retrognathia, clenched hands and rocker bottom feet. These dysmorphic features are seen in the Edward syndrome but with milder degrees. |
| Databáze: | OpenAIRE |
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