First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7
Holoprosencephaly (HPE) is a developmental defect in humans in which the forebrain fails to completely separate into two hemispheres. We describe a 12 3/7-week-old fetus found on ultrasound evaluation to have features consistent with HPE, including a single anterior ventricle, fused thalami, and a f...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2013/578202 |
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| author | Lindsay B. Henderson Virginia L. Corson Daniel O. Saul Cynthia Anderson Sarah Millard Denise A. S. Batista Karin J. Blakemore Cheryl DeScipio |
| author_facet | Lindsay B. Henderson Virginia L. Corson Daniel O. Saul Cynthia Anderson Sarah Millard Denise A. S. Batista Karin J. Blakemore Cheryl DeScipio |
| author_sort | Lindsay B. Henderson |
| collection | DOAJ |
| description | Holoprosencephaly (HPE) is a developmental defect in humans in which the forebrain fails to completely separate into two hemispheres. We describe a 12 3/7-week-old fetus found on ultrasound evaluation to have features consistent with HPE, including a single anterior ventricle, fused thalami, and a flattened profile. Cytogenetic analysis of chorionic villi revealed a ring chromosome 7 [r(7)]. This uncommon finding has been associated with growth delay, microcephaly, and dermatologic abnormalities. However, both the clinical features and the extent of cytogenetic imbalance of chromosome 7 are variable, and few reported cases of r(7) have been molecularly studied. To our knowledge, this is the first report of a prenatally identified r(7), molecularly characterized using array comparative genomic hybridization. |
| format | Article |
| id | doaj-art-d8dabcda76b048289441f63909f0a243 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-d8dabcda76b048289441f63909f0a2432025-02-03T05:48:27ZengWileyCase Reports in Genetics2090-65442090-65522013-01-01201310.1155/2013/578202578202First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7Lindsay B. Henderson0Virginia L. Corson1Daniel O. Saul2Cynthia Anderson3Sarah Millard4Denise A. S. Batista5Karin J. Blakemore6Cheryl DeScipio7Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USADepartment of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USADepartment of Pathology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Park Building SB202, Baltimore, MD 21287, USADepartment of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USADepartment of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USAInstitute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USADepartment of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USAInstitute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USAHoloprosencephaly (HPE) is a developmental defect in humans in which the forebrain fails to completely separate into two hemispheres. We describe a 12 3/7-week-old fetus found on ultrasound evaluation to have features consistent with HPE, including a single anterior ventricle, fused thalami, and a flattened profile. Cytogenetic analysis of chorionic villi revealed a ring chromosome 7 [r(7)]. This uncommon finding has been associated with growth delay, microcephaly, and dermatologic abnormalities. However, both the clinical features and the extent of cytogenetic imbalance of chromosome 7 are variable, and few reported cases of r(7) have been molecularly studied. To our knowledge, this is the first report of a prenatally identified r(7), molecularly characterized using array comparative genomic hybridization.http://dx.doi.org/10.1155/2013/578202 |
| spellingShingle | Lindsay B. Henderson Virginia L. Corson Daniel O. Saul Cynthia Anderson Sarah Millard Denise A. S. Batista Karin J. Blakemore Cheryl DeScipio First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7 Case Reports in Genetics |
| title | First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7 |
| title_full | First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7 |
| title_fullStr | First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7 |
| title_full_unstemmed | First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7 |
| title_short | First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7 |
| title_sort | first trimester diagnosis of holoprosencephaly secondary to a ring chromosome 7 |
| url | http://dx.doi.org/10.1155/2013/578202 |
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