Author's response to reviews Title: Deletion Xq27.3q28 that includes IDS and FMR1 in female patient with global developmental delays and nonrandom X inactivation Authors:

X inactivation of the FMR1 fragile X mental retardation gene.

X chromosome inactivation has been hypothesised to play a role in the aetiology and clinical expression of the fragile X syndrome. The identification of the FMR1 gene involved in fragile X syndrome allows testing of the assumption that the fragile X locus is normally subject to X inactivation. We studied the expression of the FMR1 gene from inactive X chromosomes by reverse transcription of RNA...

Author's Response to Reviews Ovarian Dysfunction and Fmr1 Alleles in a Large Italian Family with Pof and Fraxa Disorders: Case Title: Report Authors

I-36: The Necessity of Genetic Screening in Premature Ovarian Failure and Diminished Ovarian Reserved Patients

Variability in the subfertile patient population excludes the possibility of a single approach to controlled ovarian stimulation (COS) covering all the requirements of a patient. Modern medical science has made great advances in the understanding and the development of new drugs, treatment options and quantitative methods that can identify single patient characteristics. Factors that reduce fol...

Author's response to reviews Title: Delays in starting antiretroviral therapy in patients with HIV-associated tuberculosis accessing non-integrated clinical services in a South African township Authors:

Title: Delays in starting antiretroviral therapy in patients with HIV-associated tuberculosis accessing non-integrated clinical services in a South African township Authors:

Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea

AbstractChromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome ...