Hi,

Hope some of these references may be of help to you:

Marlborough M, Welham A, Jones C, Reckless S, Moss J. Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence. J Neurodev Disord. 2021 Jul 23;13(1):28. doi: 10.1186/s11689-021-09362-5

Salcedo-Arellano MJ, Hagerman RJ, Martínez-Cerdeño V. Fragile X syndrome: clinical presentation, pathology and treatment. Gac Med Mex. 2020;156(1):60-66. English. doi: 10.24875/GMM.19005275

Lisik MZ. Health problems in females carriers of premutation in the FMR1 gene. Psychiatr Pol. 2017 Oct 29;51(5):899-907. English, Polish. doi: 10.12740/PP/65778

Payán-Gómez C, Ramirez-Cheyne J, Saldarriaga W. Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype. Appl Clin Genet. 2021 Jul 5;14:305-312. doi: 10.2147/TACG.S265835

Wheeler AC, Bailey DB Jr, Berry-Kravis E, Greenberg J, Losh M, Mailick M, Milà M, Olichney JM, Rodriguez-Revenga L, Sherman S, Smith L, Summers S, Yang JC, Hagerman R. Associated features in females with an FMR1 premutation. J Neurodev Disord. 2014;6(1):30. doi: 10.1186/1866-1955-6-30

Man L, Lekovich J, Rosenwaks Z, Gerhardt J. Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations. Front Mol Neurosci. 2017 Sep 12;10:290. doi: 10.3389/fnmol.2017.00290

Hoyos LR, Thakur M. Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency. J Assist Reprod Genet. 2017 Mar;34(3):315-323. doi: 10.1007/s10815-016-0854-6

Bartholomay KL, Lee CH, Bruno JL, Lightbody AA, Reiss AL. Closing the Gender Gap in Fragile X Syndrome: Review on Females with FXS and Preliminary Research Findings. Brain Sci. 2019 Jan 12;9(1):11. doi: 10.3390/brainsci9010011

Rodrigues VO, Polisseni F, Pannain GD, Carvalho MAG. Genetics in human reproduction. JBRA Assist Reprod. 2020 Oct 6;24(4):480-491. doi: 10.5935/1518-0557.20200007

Hi Zainab,

Also this articles are about fragile X chromosome in female:

Article Classical fragile-X phenotype in a female infant disclosed b...

Article A female with typical fragile-X phenotype caused by maternal...

Article Psychiatric disability in female carriers of fragile X chromosome

Article Fragile X Syndrome in a Female With Homozygous Full-Mutation...