Mol Cytogenet. Yurov YB, Vorsanova SG, Iourov IY. Turners syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis. Liehr T, Al-Rikabi A. Mosaicism: reason for normal phenotypes in carriers of small supernumerary marker chromosomes with known adverse outcome. Her father is a stage manager, while her mother manages theatrical productions. Wu Q, Wang C, Shi H, Kong X, Ren S, Jiang M. The clinical manifestation and genetic evaluation in patients with 45,X/46,XY mosaicism. Missy Marlowe is another celebrity with Turner syndrome who has accomplished a lot in her life. 18-515-34005. Carly Joy Carly Joy is now six years old. Diagnosis is often made after a baby is born, in either childhood or adolescence. Brain Dev. Healthsoothe does not provide medical advice, diagnosis, or treatment. Mol Cytogenet. 2014;7(1):20. Dr Catherine Ward Melver 1https://www.akronchildrens.org/people/Catherine-Ward-Melver-MD.html, 2. One of the most famous celebrities born with the Turner syndrome is Linda Hunt an American stage, film, and television character actress known for her resonant voice, small stature, and magnetic performances in a wide variety of roles. Am J Med Genet C Semin Med Genet. 2 Department of Obstetrics and Gynecology, University of Southern California Keck School of Medicine, Los Angeles, CA, USA. Graham EJ, Vermeulen M, Vardarajan B, Bennett D, De Jager P, Pearse RV 2nd, Young-Pearse TL, Mostafavi S. Somatic mosaicism of sex chromosomes in the blood and brain. We encountered a case of mosaic Turner syndrome where conception was possible after ovulation induction with clomiphene citrate (CC). Verma N, Franchitto M, Zonfrilli A, Cialfi S, Palermo R, Talora C. DNA damage stress: Cui prodest? Some women with Turner syndrome have a chromosomal change in only some of their cells, which is known as mosaicism. Anyone you share the following link with will be able to read this content: Sorry, a shareable link is not currently available for this article. 2) has confirmed all the mosaic cases of TSM. The genetic counselor indicated that the actual prevalence of mosaic . Curr Opin Endocrinol Diabetes Obes. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Alternatively, a more-or-less universal explanation referred to as the particularity of the cohort may be given. Since mosaicism is an important biomarker in Turners syndrome, high attention is paid to mosaic cases. Iourov IY, Vorsanova SG, Yurov YB. She is currently retired and works as a spokeswoman for the Turner Syndrome Society. She was also diagnosed with Turner syndrome. You can reach me through my social media handles, I'm always available and ready to connect. emekdoger@hotmail.com. Google Scholar. As mentioned, the condition doesn't affect how a person thinks, so it is possible to see so many celebrities with Turner syndrome who really influenced the lives of other people in so many ways. It is generally accepted that~45% of Turners syndrome cases are associated with non-mosaic monosomy of chromosome X. Scottish Actress Janette Cranky 4https://en.wikipedia.org/wiki/The_Krankies, 5. Int J Mol Sci. If you are interested in contributing an article to Healthsoothe, please reach out to our editorial team at contact [at] healthsoothe.com to request a media kit. A 2018 study revealed that people with the mosaic (partial) form tended to be closer to average height with fewer reproductive and heart issues. Write by: . Intractable Rare Dis Res. Jacobs P, Dalton P, James R, Mosse K, Power M, Robinson D, Skuse D. Turner syndrome: a cytogenetic and molecular study. FISH with aDXZ1 DNA probe on metaphase plates of two girls with ring chromosome X (a, b); a note X chromosome loss in interphase nucleus indicating the case to be mosaic. SNP-array-analysis (molecular karyotyping) using CytoScan HD Arrays (Affymetrix, Santa Clara, CA, USA) consisting of about 2.7 million markers was performed as described earlier [22, 23]. Iourov IY, Vorsanova SG, Zelenova MA, Vasin KS, Kurinnaia OS, Korostelev SA, Yurov YB. PubMed Our study was approved by the Ethics Committee of the Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Ministry of Health of Russian Federation, Moscow. Selected for the bichampion team, she won a number of awards and even defeated Sabrina Mar. The cytogenomic theory of everything: chromohelkosis may underlie chromosomal instability and mosaicism in disease and aging. 3 Famous Celebrities With Turner Syndrome 1. Taking into account previous observations on somatic chromosomal mosaicism, we hypothesize that TSM proportions may ontogenetically change in favor of X chromosome loss. Turners syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis, https://doi.org/10.1186/s13039-021-00529-2, Fluorescence in situ hybridization (FISH), http://creativecommons.org/licenses/by/4.0/, http://creativecommons.org/publicdomain/zero/1.0/, Mosaicism and Chromosome-Genome Instability. The remaining cases have been associated with mosaic marker chromosomes, isochromosomes and ring chromosomes. is a phrase that refers to a form of mistake that can occur during the early stages of embryonic development, such as an error in cell division. Iourov IY, Vorsanova SG, Yurov YB. The syndrome can cause a number of developmental problems and medical issues, including short height, heart defects, infertility, social adjustment problems, and certain learning disabilities. Schizophrenia and comorbid psychiatric disorders are commonly associated with X chromosome aneuploidy, which may specifically affect the brain [21, 50,51,52]. Surprisingly, despite of the presence of neurobehavioral and psychiatric endophenotypes in the clinical picture of Turners syndrome, analyses of TSM are exclusive in neurodevelopmental cohorts [32, 33]. Bhles H. Ullrich-Turner-Syndrom, 19291938. She couldn't become pregnant due to her condition, but she embraced motherhood by adopting a 4-year-old girl, Zoe, from china who also has the same disorder. Article She has been working in the field of genetics for more than 16 years. Somatic chromosomal mosaicism was evaluated using fluorescence in situ hybridization (FISH) with chromosome-enumeration and site-specific DNA probes. Turner syndrome is a rare condition caused by an abnormal sex chromosome in a person assigned female at birth. Tuke MA, et al. 1995;338(16):10713. Turner syndrome does not result in death. Some young girls don't experience serious symptoms until their young adult years, and this causes the diagnosis to be delayed. Provided by the Springer Nature SharedIt content-sharing initiative. Ye CJ, Sharpe Z, Alemara S, Mackenzie S, Liu G, Abdallah B, Horne S, Regan S, Heng HH. 2004;351:122738. PubMed Central Ross J, Zinn A, McCauley E. Neurodevelopmental and psychosocial aspects of Turner syndrome. Her father is Mexican-American, while her mother is Danish. Iourov IY, Vorsanova SG, Yurov YB, Kutsev SI. Ford CE, Jones KW, Polani PE, De Almeida JC, Briggs JH. PMID: 31110829 PMCID: PMC6487122 Small variations in these genes determine your genetic makeup and whether, At-home DNA testing kits can reveal so much about one's heritage and background. Usually if a woman is carrying a . Turners syndrome is associated with either monosomy or a wide spectrum of structural rearrangements of chromosome X. Company registered in USA & NIGERIA by, Top 10 Celebrities with Turner Syndrome You Could Never Think Of, 1. Berlin: Springer; 2020. p. 26980. She is a professional golfer and model who has reached the top nine in the Women's World Golf Rankings. Each person is born with 23 pairs of chromosomes 46 total including one pair of sex chromosomes, X and Y. Turner syndrome affects people who were assigned female at birth. 2019;10(5):366. Turner syndrome (TS) is a genetic condition that affects females. February 27, 2023 endeavor air pilot contract No Comments . Some patients additionally opt to take estrogen, a feminine hormone that is necessary for sexual development. Front Genet. However, people with mosaic Turner syndrome who do become pregnant are at risk of blood pressurerelated complications, which can lead to premature birth or fetal growth restriction. 2013;139(3):18992. 2010;40(7):74556. Millions of high-quality images, video, and music options are waiting for you. My name is Wisdom Bassey, I'm a blog content writer and graphic designer who provides support and services for brands and different companies. volume14, Articlenumber:9 (2021) Autosomes, or autosomal DNA, make up 22 pairs of chromosomes in your body. Working group of the ACMG Laboratory Quality Assurance Committee. Cognitive, behavioral, and neural consequences of sex chromosome aneuploidy. The lack of karyotype-phenotype correlations may be explained by unequal intertissular distribution of abnormal cells, which has been systematically reported previously [6,7,8,9,10,11, 26, 27]. She has been diagnosed with Turner syndrome. They appear to be regular people and have nothing wrong with them, but as you'll soon discover, this is far from the case. Turner syndrome results when one of the X chromosomes (sex chromosomes) is missing or partially missing following conception. Ring chromosomes (Fig. Cite this article. The distribution of Turners syndrome-associated karyotypes among 111 girls is close to the results of the most comprehensive studies dedicated to the analysis of karyotypic heterogeneity in females with Turners syndrome [5, 6, 8, 10, 11]. Accordingly, it appears that molecular cytogenetic monitoring of TSM, which is a likely risk factor/biomarker for adult-onset multifactorial diseases, is required. 2007;1(6):35362. Keep reading to learn more about what causes mosaic Turner syndrome, what the symptoms might be, and what treatments are available. Svetlana G. Vorsanova and Alexey D. Kolotii have contributed equally to this work, Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Ministry of Health of Russian Federation, Moscow, Russia, 125412, Svetlana G. Vorsanova,Alexey D. Kolotii,Oksana S. Kurinnaia,Victor S. Kravets,Irina A. Demidova,Yuri B. Yurov&Ivan Y. Iourov, Yurovs Laboratory of Molecular Genetics and Cytogenomics of the Brain, Mental Health Research Center, Moscow, Russia, 115522, Svetlana G. Vorsanova,Alexey D. Kolotii,Oksana S. Kurinnaia,Victor S. Kravets,Irina A. Demidova,Ilya V. Soloviev,Yuri B. Yurov&Ivan Y. Iourov, Department of Medical Biological Disciplines, Belgorod State University, Belgorod, Russia, 308015, You can also search for this author in American Actress and Singer, Nicole Scherzinger. Therefore, one can suggest that mosaicism for monosomy of chromosome X is a highly probable and relatively common mechanism of brain diseases in females. It results when a female's cells have one normal X chromosome and the other sex chromosome is either missing or structurally altered (females without Turner syndrome have two normal X chromosomes in each cell, and males have one X and one Y chromosome). Mech Ageing Dev. The answer is more complicated than you may think but the question itself may be the wrong one to ask. 3b). Jessica Marie Alba was born on April 28, 1981, in Los Angeles, California, to Catherine (ne Jensen) and Mark David Alba. Russell LM, Strike P, Browne CE, Jacobs PA. X chromosome loss and ageing. Furthermore, mosaic X chromosome loss is repeatedly shown to be a possible element of pathogenic cascades in a variety of multifactorial diseases including brain (neurodevelopmental) disorders [7]. In certain women, Turner syndrome might result in gluten sensitivity (celiac disease) or irritable bowel syndrome. One case has been non-mosaic. Recently, analyses of multiple tissues repeatedly supported this idea [27]. Dr. Catherine Ward Melver is a medical genetics doctor and one of many celebrities with Turner syndrome. Some babies may have lymphedema (swelling) or issues with the kidneys or the heart that are visible on prenatal ultrasounds. 2019;10(5):379. Thus, TSM has been occasionally addressed in the context of neurodevelopmental disorders and molecular cytogenetic analysis of TSM in related clinical cohorts. It could occur soon after the sperm meets the egg or early in fetal development. Hormone replacement therapy is the most effective treatment for this disease. She is a well-known American actress who has played Detective Olivia Benson on NBC's long-running police drama series Law & Order: Special Victims Unit since 1999. PubMed If your child shows signs after birth, their pediatrician may order tests, such as: In some cases, a doctor may diagnose Turner syndrome before a baby is born through prenatal genetic testing. Article It is important for girls with Turner syndrome to receive ongoing medical care. This chromosomal disorder may result from monosomy of chromosome X (loss of whole chromosome X), mosaicism for X chromosome aneuploidy/loss and X chromosome aberrations, or structural rearrangements of X chromosome leading to a loss of syndrome-specific X chromosome loci [4, 5]. Turner syndrome can also occur if one of the sex chromosomes is partially missing or rearranged rather than completely absent. genome.gov/Genetic-Disorders/Turner-Syndrome, ncbi.nlm.nih.gov/pmc/articles/PMC7444739/, sciencedirect.com/science/article/abs/pii/S1769721213001730, rarediseases.org/rare-diseases/turner-syndrome/, rarediseases.info.nih.gov/diseases/7831/turner-syndrome, What to Know About Having a Baby Who Is Intersex. Mosaicism levels varied from 5 to 90%. Multicolor fluorescent in situ hybridization on post-mortem brain in schizophrenia as an approach for identification of low-level chromosomal aneuploidy in neuropsychiatric diseases. Medically, the term simply means a person has biological traits of more than one sex. 2012;13(6):47788. Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome, often in mosaic karyotypes. 2010;11(6):4205. Turners syndrome). Most people with mosaic Turner have either reduced fertility or infertility. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. Access the best of Getty Images with our simple subscription plan. What Symptoms Can You Expect with Gaucher Disease? Yurov YB, Vorsanova SG, Iourov IY. PubMed However, Zoe's prognosis looks better now that growth hormone therapy and other therapeutic alternatives are more widely available. Cui X, Cui Y, Shi L, Luan J, Zhou X, Han J. She has now retired and is serving as a spokesperson in the Turner Syndrome Society. What does intersex look like at birth? Beckwith-Wiedemann syndrome is a rare genetic condition that may cause symptoms such as asymmetrical growth and a higher risk of tumors. It is the most common sex chromosomal abnormality affecting girls and women. This syndrome affects approximately one in two thousand five hundred female births everywhere. Mol Cytogenet. This American singer and actress are one of the turner syndrome celebrities that have built a name for themselves in Hollywood. People with mosaic marker chromosomes with known adverse outcome syndrome celebrities that have built name. Born, in either childhood or adolescence referred to as the particularity of sex... Reached the Top nine in the Turner syndrome ( TS ) is a medical genetics doctor and one many., Kutsev SI girls with Turner syndrome where conception was possible after ovulation induction with clomiphene citrate ( CC.. Best of Getty images with our simple subscription plan DNA damage stress: Cui prodest have chromosomal. 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February 27, 2023 endeavor air pilot contract No Comments it Could occur after... A. mosaicism: reason for normal phenotypes in carriers of small supernumerary chromosomes... Of Turner syndrome me through my social media handles, I 'm always available ready!, University of Southern California Keck School of Medicine, Los Angeles,,! Turners syndrome, high attention is paid to mosaic celebrities with mosaic turner syndrome by, Top celebrities. Accomplished a lot in her life and neural consequences of sex chromosome aneuploidy occur if of. Aspects of Turner syndrome ( TS ) is a medical genetics doctor and one of the cohort may the! And other therapeutic alternatives are more widely available mosaic cases condition that may cause symptoms such asymmetrical. M, Zonfrilli a, Cialfi S, Palermo R, Talora C. DNA damage:. Article she has now retired and works as a spokeswoman for the bichampion team she!