45,X/47,XXX Mosaicism and Short Stature
We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been sh...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2015/263253 |
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| _version_ | 1832556155456454656 |
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| author | Erica Everest Laurie A. Tsilianidis Anzar Haider Douglas G. Rogers Nouhad Raissouni Bahareh Schweiger |
| author_facet | Erica Everest Laurie A. Tsilianidis Anzar Haider Douglas G. Rogers Nouhad Raissouni Bahareh Schweiger |
| author_sort | Erica Everest |
| collection | DOAJ |
| description | We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical Turner syndrome, which is what we mostly see in our patient. However, this patient is a special case, because she is exceptionally short. Overall, one cannot predict the resultant phenotype in these mosaic conditions. This creates difficulty in counseling parents whose children or fetuses have these karyotypes. |
| format | Article |
| id | doaj-art-af8bdc6437d24f8faebb60ae5422e57c |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-af8bdc6437d24f8faebb60ae5422e57c2025-02-03T05:46:15ZengWileyCase Reports in Pediatrics2090-68032090-68112015-01-01201510.1155/2015/26325326325345,X/47,XXX Mosaicism and Short StatureErica Everest0Laurie A. Tsilianidis1Anzar Haider2Douglas G. Rogers3Nouhad Raissouni4Bahareh Schweiger5Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USACleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USACleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USACleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USACleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USACleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USAWe describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical Turner syndrome, which is what we mostly see in our patient. However, this patient is a special case, because she is exceptionally short. Overall, one cannot predict the resultant phenotype in these mosaic conditions. This creates difficulty in counseling parents whose children or fetuses have these karyotypes.http://dx.doi.org/10.1155/2015/263253 |
| spellingShingle | Erica Everest Laurie A. Tsilianidis Anzar Haider Douglas G. Rogers Nouhad Raissouni Bahareh Schweiger 45,X/47,XXX Mosaicism and Short Stature Case Reports in Pediatrics |
| title | 45,X/47,XXX Mosaicism and Short Stature |
| title_full | 45,X/47,XXX Mosaicism and Short Stature |
| title_fullStr | 45,X/47,XXX Mosaicism and Short Stature |
| title_full_unstemmed | 45,X/47,XXX Mosaicism and Short Stature |
| title_short | 45,X/47,XXX Mosaicism and Short Stature |
| title_sort | 45 x 47 xxx mosaicism and short stature |
| url | http://dx.doi.org/10.1155/2015/263253 |
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