Phenotypic variations in X chromosome mutations: Two case reports
Turner syndrome (TS) affects 1 in 2500 females. Monosomy X is the most common etiology, classically presenting with hypoestrogenemia and short stature. We present two cases of partial X chromosome deletions that do not reflect the typical phenotype of TS.Patient 1 presented at age 17 with primary am...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2019-01-01
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| Series: | Case Reports in Women's Health |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214911218301188 |