A Case of Mucopolysaccharidosis II /I-Cell Disease
A 24-year-old second gravida was admitted at 17.3 weeks for MTP. She underwent a chorion villus sampling (CVS) at 13 weeks of gestation which revealed a fetus with normal karyotype but lysosomal enzyme assay revealed marked deficiency of betagalactosidase consistent with I-cell disease. MTP was done...
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| Veröffentlicht in: | Journal of SAFOG (South Asian Federation of Obstetrics and Gynecology) 2013-04, Vol.5 (1), p.45-46 |
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| Hauptverfasser: | , |
| Format: | Artikel |
| Sprache: | eng |
| Online-Zugang: | Volltext |
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| Zusammenfassung: | A 24-year-old second gravida was admitted at 17.3 weeks for MTP. She underwent a chorion villus sampling (CVS) at 13 weeks of gestation which revealed a fetus with normal karyotype but lysosomal enzyme assay revealed marked deficiency of betagalactosidase consistent with I-cell disease. MTP was done. The fetus weighed 200 gm with no gross anomalies. |
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| ISSN: | 0974-8938 0975-1920 |
| DOI: | 10.5005/jp-journals-10006-1220 |