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Conference Paper: Situs inversus totalis in a fetus with a deletion at 7q36.2 detected on microarray analysis
| Title | Situs inversus totalis in a fetus with a deletion at 7q36.2 detected on microarray analysis |
|---|---|
| Authors | |
| Issue Date | 2009 |
| Citation | The 59th Annual Meeting of the American Society of Human Genetics (ASHG 2009), Honolulu, HI., 20-24 October 2009. How to Cite? |
| Abstract | Laterality disorders are a heterogeneous group of disorders associated with maternal diseases (maternal IDDM), maternal exposures to teratogens (retinoic acid), chromosome abnormalities and single gene disorders (ZIC3 mutation). We report on a fetus with a submicroscopic deletion at 7q36.2 with right atrial isomerism (RAI). CASE: The mother was a 30y G4P1SA2L1 and the father was 35y. Both were healthy and non-consanguineous and their family history was non-contributory. They had a healthy son and daughter and had two miscarriages. MSS was negative. Detailed fetal U/S and echocardiography at 20w showed: RAI with ... |
| Persistent Identifier | http://hdl.handle.net/10722/197322 |
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Andelfinger, G | en_US |
| dc.contributor.author | Hitz, MP | en_US |
| dc.contributor.author | Keating, S | en_US |
| dc.contributor.author | Mercier, J | en_US |
| dc.contributor.author | Teitelbaum, R | en_US |
| dc.contributor.author | Richter, A | en_US |
| dc.contributor.author | Chung, BHY | en_US |
| dc.contributor.author | Chitayat, D | en_US |
| dc.date.accessioned | 2014-05-23T02:42:25Z | - |
| dc.date.available | 2014-05-23T02:42:25Z | - |
| dc.date.issued | 2009 | en_US |
| dc.identifier.citation | The 59th Annual Meeting of the American Society of Human Genetics (ASHG 2009), Honolulu, HI., 20-24 October 2009. | en_US |
| dc.identifier.uri | http://hdl.handle.net/10722/197322 | - |
| dc.description.abstract | Laterality disorders are a heterogeneous group of disorders associated with maternal diseases (maternal IDDM), maternal exposures to teratogens (retinoic acid), chromosome abnormalities and single gene disorders (ZIC3 mutation). We report on a fetus with a submicroscopic deletion at 7q36.2 with right atrial isomerism (RAI). CASE: The mother was a 30y G4P1SA2L1 and the father was 35y. Both were healthy and non-consanguineous and their family history was non-contributory. They had a healthy son and daughter and had two miscarriages. MSS was negative. Detailed fetal U/S and echocardiography at 20w showed: RAI with ... | - |
| dc.language | eng | en_US |
| dc.relation.ispartof | Annual Meeting of the American Society of Human Genetics, ASHG 2009 | en_US |
| dc.title | Situs inversus totalis in a fetus with a deletion at 7q36.2 detected on microarray analysis | en_US |
| dc.type | Conference_Paper | en_US |
| dc.identifier.email | Chung, BHY: bhychung@hku.hk | en_US |
| dc.identifier.authority | Chung, BHY=rp00473 | en_US |
| dc.description.nature | postprint | - |
| dc.identifier.hkuros | 167721 | en_US |