A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion
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Abstract
We report a case of 11-year-old girl with growth retardation and 46, XX, Xq27-qter deletion. The endocrinologic evaluation revealed growth hormone deficiency. In karyotype analysis 46, XX, Xq27-qter deletion was determined. The deletion of terminal region of chromosome 27 is most commonly being detected during the evaluation of infertility, premature ovarian insufficiency or in screening for fragile X carrier status. To our knowledge, this is the first reported case with 46, XX, Xq27-qter deletion and growth hormone deficiency. Furthermore, this case might facilitate future search for candidate genes involved in growth hormone deficiency.
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| Files | ||
| Issue | Vol 55, No 10 (2017) | |
| Section | Case Report(s) | |
| Keywords | ||
| Short stature Growth hormone deficiency X chromosome Deletion Gene | ||
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