Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature
<p>Abstract</p> <p>Background</p> <p>Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments.</p> <p>Case Presentation</p>...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2006-01-01
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| Series: | BMC Medical Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2350/7/2 |
| _version_ | 1818885448468004864 |
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| author | Meck Jeanne M Brooks Brian P Haddad Bassem R Bendavid Claude Blain Delphine Toretsky Jeffrey A |
| author_facet | Meck Jeanne M Brooks Brian P Haddad Bassem R Bendavid Claude Blain Delphine Toretsky Jeffrey A |
| author_sort | Meck Jeanne M |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments.</p> <p>Case Presentation</p> <p>A 9 year-old boy presented to our clinic with Factor VII deficiency, microcephaly, a seizure disorder, multiple midline abnormalities (agenesis of the corpus callosum, imperforate anus, bilateral optic nerve hypoplasia), developmental delay, hypopigmented macules, short 5<sup>th </sup>fingers, and sleep apnea due to enlarged tonsils. Cytogenetic and fluorescence <it>in situ</it> hybridization analyses revealed an unbalanced translocation involving the segment distal to 16p13 replacing the segment distal to 13q33 [46, XY, der(13)t(13;16)(q33;p13.3)]. Specific BAC-probes were used to confirm the extent of the 13q deletion.</p> <p>Conclusion</p> <p>This unique unbalanced chromosomal translocation may provide insights into genes important in midline development and underscores the previously-reported phenotype of Factor VII deficiency in 13q deletions.</p> |
| first_indexed | 2024-12-19T16:05:36Z |
| format | Article |
| id | doaj.art-43e769d3f22b400195c84dbf8bb8dbeb |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-19T16:05:36Z |
| publishDate | 2006-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-43e769d3f22b400195c84dbf8bb8dbeb2022-12-21T20:14:50ZengBMCBMC Medical Genetics1471-23502006-01-0171210.1186/1471-2350-7-2Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literatureMeck Jeanne MBrooks Brian PHaddad Bassem RBendavid ClaudeBlain DelphineToretsky Jeffrey A<p>Abstract</p> <p>Background</p> <p>Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments.</p> <p>Case Presentation</p> <p>A 9 year-old boy presented to our clinic with Factor VII deficiency, microcephaly, a seizure disorder, multiple midline abnormalities (agenesis of the corpus callosum, imperforate anus, bilateral optic nerve hypoplasia), developmental delay, hypopigmented macules, short 5<sup>th </sup>fingers, and sleep apnea due to enlarged tonsils. Cytogenetic and fluorescence <it>in situ</it> hybridization analyses revealed an unbalanced translocation involving the segment distal to 16p13 replacing the segment distal to 13q33 [46, XY, der(13)t(13;16)(q33;p13.3)]. Specific BAC-probes were used to confirm the extent of the 13q deletion.</p> <p>Conclusion</p> <p>This unique unbalanced chromosomal translocation may provide insights into genes important in midline development and underscores the previously-reported phenotype of Factor VII deficiency in 13q deletions.</p>http://www.biomedcentral.com/1471-2350/7/2 |
| spellingShingle | Meck Jeanne M Brooks Brian P Haddad Bassem R Bendavid Claude Blain Delphine Toretsky Jeffrey A Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature BMC Medical Genetics |
| title | Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature |
| title_full | Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature |
| title_fullStr | Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature |
| title_full_unstemmed | Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature |
| title_short | Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature |
| title_sort | factor vii deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p case report and review of the literature |
| url | http://www.biomedcentral.com/1471-2350/7/2 |
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