Fragile x chromosom in female?

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

Anna Raczyńska

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...

Is an encrypted dataset with Microsoft SEAL compatible with Cloudsim simulator??

Post evaluation of close range photogrammetry experiments ?

In your experience what is the difference between G.652D and G.655D optical fiber. In field and in lab?

Various schools have emerged in the study of comparative literature. Mention the most prominent of them in a nutshell.?

H2O2 scavenging activity problem??

Data balancing before test/train split or only training data balancing. which is correct?

How can we measure disease severity of a pathogen in a crop?

Why can't ANSYS Mechanical APDL detect the volume of my design ?

What is role of chronopharmacology or circadian rhythms in metabolic diseases including obesity, diabetes and cardiovascular diseases?

Why there is no effective vaccine against Congo Fever (CCHFV)?

After a reference from Int J Body Compos Res, can any body help?

Can we block unwanted images during the x-ray prediction?

Does anyone know to clarify these changes?

How to calculate the crystallinity of cellulose film?

What could be the reason for not having further low chi square value (better agreement) in my refinement result?

Can anyone share his experience regards Smoothing in origin?

How to replicate the well conditions of a crystal hit with 20%(w/v) isopropanol?

I have need of XRD graph analysis software for phase identification. Can you please provide links for software tools which can be downloaded?

Why the CHi^2 is close to zero with a bad fitting but the Rp and Rwp are still high?

Can't recognize exact phase and PDF card no of Silicon carbide in XRD?