Chromosome 1p36 Deletion Syndrome: Prenatal Diagnosis, Molecular Cytogenetic Characterization and Fetal Ultrasound Findings
Objective: To present prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 1p (1p36.23→pter) and partial trisomy 20p (20p12.1→pter) associated with ventriculomegaly, ventricular septal defect and midface hypoplasia. Materials, Methods and Results: A 31-year-old,...
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| Format: | Article |
| Language: | English |
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Elsevier
2010-12-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455910601003 |
| _version_ | 1818158299583873024 |
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| author | Chih-Ping Chen Ming Chen Yi-Ning Su Chin-Yuan Hsu Fuu-Jen Tsai Schu-Rern Chern Pei-Chen Wu Chen-Chi Lee Wayseen Wang |
| author_facet | Chih-Ping Chen Ming Chen Yi-Ning Su Chin-Yuan Hsu Fuu-Jen Tsai Schu-Rern Chern Pei-Chen Wu Chen-Chi Lee Wayseen Wang |
| author_sort | Chih-Ping Chen |
| collection | DOAJ |
| description | Objective: To present prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 1p (1p36.23→pter) and partial trisomy 20p (20p12.1→pter) associated with ventriculomegaly, ventricular septal defect and midface hypoplasia.
Materials, Methods and Results: A 31-year-old, primigravid woman was referred for amniocentesis at 20 gestational weeks because of ventriculomegaly, ventricular septal defect, and midface hypoplasia. Amniocentesis revealed an aberrant derivative chromosome 1, or der(1). Parental karyotypes were normal. Spectral karyotyping analysis revealed that the der(1) contained a segment of chromosome 20 in the distal end of the short arm of chromosome 1. Array comparative genomic hybridization demonstrated an 8.4-Mb distal 1p deletion and a 14-Mb distal 20p duplication. The karyotype was 46,XX,der(1)t(1;20)(p36.23;p12.1)dn. Polymorphic DNA marker analysis determined the paternal origin of the aberrant chromosome. The pregnancy was subsequently terminated. A 462-g malformed female fetus was delivered at 22 gestational weeks with a prominent forehead, midface hypoplasia, a flat nasal bridge, low-set ears, a long philtrum, a pointed chin and micrognathia.
Conclusion: Spectral karyotyping, fluorescence in situ hybridization and array comparative genomic hybridization are useful for the prenatal investigation of the nature of a de novo aberrant derivative chromosome. Partial monosomy 1p (1p36.23→pter) and partial trisomy 20p (20p12.1→pter) are associated with ventriculomegaly, ventricular septal defect and midface hypoplasia on prenatal ultrasound. Prenatal diagnosis of ventriculomegaly, congenital heart defects and midface hypoplasia should alert clinicians to chromosome 1p36 deletion syndrome and prompt molecular cytogenetic analysis if necessary. |
| first_indexed | 2024-12-11T15:27:53Z |
| format | Article |
| id | doaj.art-61135df1b2fb43c2bc67d919cc98d5dc |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-12-11T15:27:53Z |
| publishDate | 2010-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-61135df1b2fb43c2bc67d919cc98d5dc2022-12-22T01:00:09ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592010-12-0149447348010.1016/S1028-4559(10)60100-3Chromosome 1p36 Deletion Syndrome: Prenatal Diagnosis, Molecular Cytogenetic Characterization and Fetal Ultrasound FindingsChih-Ping Chen0Ming Chen1Yi-Ning Su2Chin-Yuan Hsu3Fuu-Jen Tsai4Schu-Rern Chern5Pei-Chen Wu6Chen-Chi Lee7Wayseen Wang8Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Genomic Medicine, Changhua Christian Hospital, Changhua, TaiwanDepartment of Medical Genetics, National Taiwan University Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanSchool of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, TaiwanDepartment of Medical Research, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, Mackay Memorial Hospital, Taipei, TaiwanObjective: To present prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 1p (1p36.23→pter) and partial trisomy 20p (20p12.1→pter) associated with ventriculomegaly, ventricular septal defect and midface hypoplasia. Materials, Methods and Results: A 31-year-old, primigravid woman was referred for amniocentesis at 20 gestational weeks because of ventriculomegaly, ventricular septal defect, and midface hypoplasia. Amniocentesis revealed an aberrant derivative chromosome 1, or der(1). Parental karyotypes were normal. Spectral karyotyping analysis revealed that the der(1) contained a segment of chromosome 20 in the distal end of the short arm of chromosome 1. Array comparative genomic hybridization demonstrated an 8.4-Mb distal 1p deletion and a 14-Mb distal 20p duplication. The karyotype was 46,XX,der(1)t(1;20)(p36.23;p12.1)dn. Polymorphic DNA marker analysis determined the paternal origin of the aberrant chromosome. The pregnancy was subsequently terminated. A 462-g malformed female fetus was delivered at 22 gestational weeks with a prominent forehead, midface hypoplasia, a flat nasal bridge, low-set ears, a long philtrum, a pointed chin and micrognathia. Conclusion: Spectral karyotyping, fluorescence in situ hybridization and array comparative genomic hybridization are useful for the prenatal investigation of the nature of a de novo aberrant derivative chromosome. Partial monosomy 1p (1p36.23→pter) and partial trisomy 20p (20p12.1→pter) are associated with ventriculomegaly, ventricular septal defect and midface hypoplasia on prenatal ultrasound. Prenatal diagnosis of ventriculomegaly, congenital heart defects and midface hypoplasia should alert clinicians to chromosome 1p36 deletion syndrome and prompt molecular cytogenetic analysis if necessary.http://www.sciencedirect.com/science/article/pii/S1028455910601003chromosome 1chromosome 1p36 deletion syndromechromosome 20monosomy 1p36prenatal diagnosisultrasound |
| spellingShingle | Chih-Ping Chen Ming Chen Yi-Ning Su Chin-Yuan Hsu Fuu-Jen Tsai Schu-Rern Chern Pei-Chen Wu Chen-Chi Lee Wayseen Wang Chromosome 1p36 Deletion Syndrome: Prenatal Diagnosis, Molecular Cytogenetic Characterization and Fetal Ultrasound Findings Taiwanese Journal of Obstetrics & Gynecology chromosome 1 chromosome 1p36 deletion syndrome chromosome 20 monosomy 1p36 prenatal diagnosis ultrasound |
| title | Chromosome 1p36 Deletion Syndrome: Prenatal Diagnosis, Molecular Cytogenetic Characterization and Fetal Ultrasound Findings |
| title_full | Chromosome 1p36 Deletion Syndrome: Prenatal Diagnosis, Molecular Cytogenetic Characterization and Fetal Ultrasound Findings |
| title_fullStr | Chromosome 1p36 Deletion Syndrome: Prenatal Diagnosis, Molecular Cytogenetic Characterization and Fetal Ultrasound Findings |
| title_full_unstemmed | Chromosome 1p36 Deletion Syndrome: Prenatal Diagnosis, Molecular Cytogenetic Characterization and Fetal Ultrasound Findings |
| title_short | Chromosome 1p36 Deletion Syndrome: Prenatal Diagnosis, Molecular Cytogenetic Characterization and Fetal Ultrasound Findings |
| title_sort | chromosome 1p36 deletion syndrome prenatal diagnosis molecular cytogenetic characterization and fetal ultrasound findings |
| topic | chromosome 1 chromosome 1p36 deletion syndrome chromosome 20 monosomy 1p36 prenatal diagnosis ultrasound |
| url | http://www.sciencedirect.com/science/article/pii/S1028455910601003 |
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