DNA Diagnostic screening for turner syndrome and sex chromosome disorders

Abstract

The present invention encompasses methods, assays and kits for the diagnosis, screening and identification of Turner syndrome and other disorders of sexual differentiation in a human using single nucleotide polymorphisms present on the X and Y chromosomes.

1 - 14 . (canceled) 
     
     
         15 . A kit for diagnosing a disorder of sexual differentiation in a human, said kit comprising a primer that specifically binds at a position adjacent to a single nucleotide polymorphism on an X chromosome of an isolated human DNA sample, an applicator, and an instructional material for the use thereof. 
     
     
         16 . The kit of  claim 15 , wherein said disorder of sexual differentiation is Turner syndrome. 
     
     
         17 . The kit of  claim 15 , wherein said kit comprises at least four primers. 
     
     
         18 . The kit of  claim 16 , wherein said four primers are selected from the group consisting of SEQ ID NOs: 26-48. 
     
     
         19 . The kit of  claim 18 , wherein said primers are selected from the group consisting of SEQ ID NO:26, SEQ ID NO:27, SEQ ID NO:28, SEQ ID NO:38, SEQ ID NO:32, SEQ ID NO:43, SEQ ID NO:33, SEQ ID NO:34, SEQ ID NO:39, SEQ ID NO:42, SEQ ID NO:47, SEQ ID NO:48 and SEQ ID NO:46. 
     
     
         20 . The kit of  claim 15 , wherein said human is selected from the group consisting of a human fetus, a female neonate and a female child.