Disease: X chromosome- duplication Xq13 1 q21 1
- A case report of two male siblings with autism and duplication of Xq13-q21, a region including three genes predisposing for autism
- A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus
- Chromosome Xq13.2 Microduplication Involving an X-Inactivation Gene in a Girl with Short Stature, Madelung Deformity, and von Willebrand Disease
- Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene
- Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1
- Single nucleotide polymorphism array analysis uncovers a large, novel duplication in Xq13.1 in a floppy infant syndrome patient
- Turner syndrome caused by rare complex structural abnormalities involving chromosome X