Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation

• Main Authors: Neelam Meraj (Author), Muhammad Yasin (Author), Zia Ur Rehman (Author), Haleema Tahir (Author), Humaira Jadoon (Author), Niamat Khan (Author), Rabia Shahid (Author), Maria Zubair (Author), Irba Zulfiqar (Author), Musarrat Jabeen (Author), Shahzadi Neelam (Author), Abdul Hameed (Author), Shamim Saleha (Author)
• Format: Book
• Published: BMC, 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Purpose Women of reproductive age who carry fragile X premutation (PM) alleles have 56 to 200 CGG repeats in the 5'-untranslated region of FMR1 gene are at increased risk for producing children with intellectual disabilities (ID) or autism spectrum disorders (ASD) due to expansion of P...