|
|
|
|
a case with short stature, growth hormone deficiency and 46, xx, xq27-qter deletion
|
|
|
|
|
|
|
|
نویسنده
|
yıldırım şule ,topaloğlu naci ,tekin mustafa ,sılan fatma
|
|
منبع
|
acta medica iranica - 2017 - دوره : 55 - شماره : 10 - صفحه:661 -663
|
|
چکیده
|
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
|
|
کلیدواژه
|
short stature ,growth hormone deficiency ,x chromosome ,deletion ,gene
|
|
آدرس
|
çanakkale onsekiz mart university, school of medicine, department of pediatrics, turkey, çanakkale onsekiz mart university, school of medicine, department of pediatrics, turkey, çanakkale onsekiz mart university, school of medicine, department of pediatrics, turkey, çanakkale onsekiz mart university, school of medicine, department of medical genetics, turkey
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Authors
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|