Turner Mosaic Karyotype in a Patient with Short Stature: A Rare Case Report
Turner syndrome is a ‘complex developmental disorder in females caused by complete or partial absence of the second sex chromosome (monosomy X) X or Y, resulting in haploinsufficiency of multiple genes’. It is the only monosomy that is compatible with life. Turner syndrome affects almost 1 in 2,500...
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JCDR Research and Publications Private Limited
2020-02-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://jcdr.net/articles/PDF/13429/43182_CE[Ra1]_F(SL)_PF1(AG_SHU)_PN(SL)_PF2(AkA_OM)_PFA2(OM)_PFA3(OM)_ER(OM).pdf |
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| author | GUNASEKARAN BHAVANI S PAPPATHI D ANURADHA SRINIVASAN UMADEVI K INDUMATHI |
| author_facet | GUNASEKARAN BHAVANI S PAPPATHI D ANURADHA SRINIVASAN UMADEVI K INDUMATHI |
| author_sort | GUNASEKARAN BHAVANI |
| collection | DOAJ |
| description | Turner syndrome is a ‘complex developmental disorder in females caused by complete or partial absence of the second sex chromosome (monosomy X) X or Y, resulting in haploinsufficiency of multiple genes’. It is the only monosomy that is compatible with life. Turner syndrome affects almost 1 in 2,500 live female births. The most common phenotype observed in Turner patients is 45,X in more than 50% followed by isochromosome in about 5-10% subjects. Presence of similar copies of one arm of the chromosome and none of the other is defined as the isochromosome, resulting in partial monosomy of one arm and trisomy of the other which could be attributed to the abnormal transverse misdivision of centromere taking places during the meiotic or postzygotic cell division in the premeiotic gamete. The proband in the case report was referred for short stature and she revealed a rare Turner mosaic mos 45,X[6]/47,X,i(X)(q10),i(X)(q10)[6]/46,X,i(X)(q10)[88] karyotype. This article aimed to delineate the genotypic and phenotypic features exhibited by the patient. |
| first_indexed | 2024-12-14T02:24:49Z |
| format | Article |
| id | doaj.art-7fa9b79a426c442d8dbb742026798e29 |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-12-14T02:24:49Z |
| publishDate | 2020-02-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-7fa9b79a426c442d8dbb742026798e292022-12-21T23:20:25ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2020-02-01142GD01GD0310.7860/JCDR/2020/43182.13429Turner Mosaic Karyotype in a Patient with Short Stature: A Rare Case ReportGUNASEKARAN BHAVANI0S PAPPATHI1D ANURADHA2SRINIVASAN UMADEVI3K INDUMATHI4Cytogeneticist, Department of Pathology-Cytogenetics Unit, Institute of Child Health and Hospital for Children, Madras Medical College, Chennai, Tamil Nadu, India.Head of the Department, Department of Pathology-Cytogenetics Unit, Institute of Child Health and Hospital for Children, Madras Medical College, Chennai, Tamil Nadu, India.Professor, Department of Medical Genetics, Institute of Child Health and Hospital for Children, Madras Medical College, Chennai, Tamil Nadu, India.Assistant Professor, Department of Pathology-Cytogenetics Unit, Institute of Child Health and Hospital for Children, Madras Medical College, Chennai, Tamil Nadu, India.Assistant Professor, Department of Pathology, Institute of Child Health and Hospital for Children, Madras Medical College, Chennai, Tamil Nadu, India.Turner syndrome is a ‘complex developmental disorder in females caused by complete or partial absence of the second sex chromosome (monosomy X) X or Y, resulting in haploinsufficiency of multiple genes’. It is the only monosomy that is compatible with life. Turner syndrome affects almost 1 in 2,500 live female births. The most common phenotype observed in Turner patients is 45,X in more than 50% followed by isochromosome in about 5-10% subjects. Presence of similar copies of one arm of the chromosome and none of the other is defined as the isochromosome, resulting in partial monosomy of one arm and trisomy of the other which could be attributed to the abnormal transverse misdivision of centromere taking places during the meiotic or postzygotic cell division in the premeiotic gamete. The proband in the case report was referred for short stature and she revealed a rare Turner mosaic mos 45,X[6]/47,X,i(X)(q10),i(X)(q10)[6]/46,X,i(X)(q10)[88] karyotype. This article aimed to delineate the genotypic and phenotypic features exhibited by the patient.https://jcdr.net/articles/PDF/13429/43182_CE[Ra1]_F(SL)_PF1(AG_SHU)_PN(SL)_PF2(AkA_OM)_PFA2(OM)_PFA3(OM)_ER(OM).pdfgenotypeisochromosomemisdivisionphenotype |
| spellingShingle | GUNASEKARAN BHAVANI S PAPPATHI D ANURADHA SRINIVASAN UMADEVI K INDUMATHI Turner Mosaic Karyotype in a Patient with Short Stature: A Rare Case Report Journal of Clinical and Diagnostic Research genotype isochromosome misdivision phenotype |
| title | Turner Mosaic Karyotype in a Patient with Short Stature: A Rare Case Report |
| title_full | Turner Mosaic Karyotype in a Patient with Short Stature: A Rare Case Report |
| title_fullStr | Turner Mosaic Karyotype in a Patient with Short Stature: A Rare Case Report |
| title_full_unstemmed | Turner Mosaic Karyotype in a Patient with Short Stature: A Rare Case Report |
| title_short | Turner Mosaic Karyotype in a Patient with Short Stature: A Rare Case Report |
| title_sort | turner mosaic karyotype in a patient with short stature a rare case report |
| topic | genotype isochromosome misdivision phenotype |
| url | https://jcdr.net/articles/PDF/13429/43182_CE[Ra1]_F(SL)_PF1(AG_SHU)_PN(SL)_PF2(AkA_OM)_PFA2(OM)_PFA3(OM)_ER(OM).pdf |
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