Ment Retard Dev Disabil Res Rev. Here, we address the cohort with relatively unspecific phenotypes (i.e. Celebrity Bio Dr. Lynette Nusbacher Early Life, Career, and Transition. It is important for girls with Turner syndrome to receive ongoing medical care. California Privacy Statement, et al. CAS Curr Genomics. TSM for X chromosome loss and isochromosomes X is suggested to have similar contribution to pathogenesis of neurodevelopmental disorders as TSM for supernumerary marker chromosomes X. TSM for X chromosome loss and ring chromosomes X is likely to contribute to pathogenesis of neurodevelopmental disorders in 0.1% of cases. Moreover, chromosome abnormalities may initiate chromosome instability per se [23]. In other words, the rates of mosaicism may increase with age mediating aging-related diseases and adverse aging effects [23, 40,41,42,43,44]. Memory usage: 62744.0KB. Turner syndrome does not result in death. Braz J Med Biol Res. She is a professional golfer and model who has reached the top nine in the Women's World Golf Rankings. The missing gene prevents the body from growing and developing normally. Molecular cytogenetic findings in a female with non-mosaic monosomy X; a FISH with a DXZ1 DNA probe (chromosome X, one green signal) and D1Z1 DNA probe (chromosomes 1, two red signals); b SNP-array results demonstrating non-mosaic X chromosome loss (regular monosomy X). Vorsanova SG, Zelenova MA, Yurov YB, Iourov IY. She participated in artistic gymnastics and was a member of the United States squad that competed in the Pan American Games in Indianapolis. 2005;39(6):306. TSM was uncovered in 76 girls (1.9%). Treatment varies by the person and their needs. Therefore, one can suggest that mosaicism for monosomy of chromosome X is a highly probable and relatively common mechanism of brain diseases in females. We describe a case of Turner syndrome with a 46,XY genotype by conventional 5-cell karyotype who was subsequently found to have a mosaic genotype of 18% 45,X and 82% 46,XY by 50-cell FISH analysis. Karyotypic and clinical data have been taken into account for understanding possible phenotypic outcomes of TSM. Article The epidemiology of sex chromosome abnormalities. The best way to treat this disorder is to use hormone replacement therapy. Here, we have shown that 1.2% of females with neurodevelopmental disorders are affected by mosaic X chromosome loss alone. A normal person inherits two sex chromosomes, but people with Turner syndrome have only one sex chromosome. (2006). She told me that for some cells they weren't able to pick up the second X, while for some cells they were able to pick up the X, so it's most likely mosaic Turner syndrome. 2019;20(5):1073. Additionally, system biology analyses of molecular and cellular pathways leading to the increase of X chromosome loss levels may offer a possibility to control/inhibit chromosomal mosaicism/instability. Treatment can help with a persons specific health issues but may not be necessary if symptoms are mild. The X files: The mystery of X chromosome instability in Alzheimers disease. Front Genet. Her father is a former Mr Universe who participated in several Hollywood films, including The Longest Yard (1974) and The Swimmer (1975). She is licensed by the OH State Medical License, the American Board of Pediatrics, and the American Board of Medical Genetics. Vorsanova, S.G., Kolotii, A.D., Kurinnaia, O.S. Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging. (2013). This means it does not run in families. All cases have been associated with chromosomal mosaicism. PubMed Central Turners syndrome represents a common chromosomal (gonosomal) syndrome (newborn prevalence: 5.9/1000) [24]. 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. The details of the analysis were previouslydescribed [19]. 2019;10(5):379. Treatment can help manage symptoms. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. A 2018 study revealed that people with the mosaic (partial) form tended to be closer to average height with fewer reproductive and heart issues. Turner syndrome can make it difficult for girls and women to function effectively in social situations, and they are more prone to develop attention-deficit/hyperactivity disorder (ADHD). ICD-10-CM Coding Rules. Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome. Int J Mol Sci. Int J Genom. When in situ hybridization and polymerase chain reaction (PCR) techniques were applied, a larger number of mosaic individuals were observed than were detected by . 3a) have been found in 12 cases (0.3%). 1959;1(7075):7113. Stone JF, Sandberg AA. Cytogenet Genome Res. Vorsanova SG, Voinova VY, Yurov IY, Kurinnaya OS, Demidova IA, Yurov YB. 2010;12(1):525. Genes (Basel). 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. Turner syndrome is caused by the absence or partial absence of one of the X chromosomes (sex chromosomes), which affects only females. Taking into account social importance of these diseases, one may be aware about the application of TSM analysis for early (preclinical) diagnosis, prognosis and possible therapeutic interventions. Turner syndrome affects both girls and women, and they require ongoing medical care from a variety of experts. Or if they do, these issues may only be minor. Organize, control, distribute and measure all of your digital content. Site-specific DNA probes for the short arm and long arm of chromosome X (structural rearrangements) and chromosome-enumeration DNA probes for autosomes and chromosome Y (marker chromosomes and controlling during analysis of low-level mosaicism for rearrangements of chromosome X) were applied when needed. 8 Great Tips to Get Rid of Stains from Your Jeans. Small supernumerary marker chromosomes (sSMC) in patients with a 45,X/46,X,+mar karyotype - 17 new cases and a review of the literature. Yurov YB, Vorsanova SG, Iourov IY, Demidova IA, Beresheva AK, Kravetz VS, Monakhov VV, Kolotii AD, Voinova-Ulas VY, Gorbachevskaya NL. Dr. Catherine Ward Melver is a medical genetics doctor and one of many celebrities with Turner syndrome. Scottish Actress Janette Cranky 4https://en.wikipedia.org/wiki/The_Krankies, 5. She has won 13 awards, including the 2012 Teen Choice Award and the 1984 Oscar Award for the Best Supporting Actress. The challenges and successful outcome are reported. Springer Nature. Celebrities with Turner syndrome may be difficult to identify to the untrained eye. However, the future is definitely brighter for Zoe with growth hormone therapy and other treatment options more easily available. Overcoming Pain & Discomfort Understanding the Impact of Craniocervical Instability. 2019;119(5):917. Despite this, she and her husband Ian Tough appeared in a Comic Relief charity film in 2007. Providing credible health information and fast-growing dental news and health company that specializes in viral content in emerging specialize mostly in Latin America (Mexico, Brazil, Colombia, Argentina), Russia, USA, Canada, Nigeria, and others. 2019;10(5):366. Here, we describe the study of TSM in a large cohort of girls with neurodevelopmental disorders and congenital anomalies by molecular cytogenetic techniques. A basic understanding of Turner syndrome: incidence, complications, diagnosis, and treatment. Zh Nevrol Psikhiatr Im S S Korsakova. However, it is systematically hypothesized that liveborn children with non-mosaic 45,X karyotype are tissue-specific mosaics [6, 25, 26]. Turners syndrome-associated karyotypes were revealed in 111 (2.8%) of 4021 girls. Some cells contain the usual two XX chromosomes and, therefore, do not contribute to health issues. Streamline your workflow with our best-in-class digital asset management system. This syndrome affects approximately one in two thousand five hundred female births everywhere. Turner syndrome (TS) is a rare genetic condition in which a girl or woman doesn't have the usual pair of 2 X chromosomes. Schizophrenia and comorbid psychiatric disorders are commonly associated with X chromosome aneuploidy, which may specifically affect the brain [21, 50,51,52]. Emek Doer 1 , Yiit akrolu 2 , Yasin Ceylan 3 , Esen Ulak 4 , zkan zdamar 5 , Eray alkan 6 Affiliations 1Department of Obstetrics & Gynecology, Kocaeli University School of Medicine, Kocaeli, Turkey. Jessica Marie Alba was born on April 28, 1981, in Los Angeles, California, to Catherine (ne Jensen) and Mark David Alba. Mosaic Turner syndrome shows reduced penetrance in an adult population study. Turner syndrome can be diagnosed before birth (early in pregnancy), throughout infancy, or in adolescence. Arajo A, Ramos ES. She was diagnosed with this disease when she was seven years old, despite being barely four feet and eight inches tall. In about 20% of the cases, two X chromosomes are present in patients of Turner syndrome but one of these chromosomes is defected and is often in a ring shape. As a result, people with this condition may lead relatively healthy lives. Dr. Catherine Ward Melver (M.D. 2019;12:52. Table 2 gives an overview of isochromosomes X detected in the present cohort. 2010;40(7):74556. Tsitol Genet. In 1969, she married. It is the most common sex chromosomal abnormality affecting girls and women. She has been working in the field of genetics for more than 16 years. Patients with . There is no cure, but eating habits and other changes can help address this, Gaucher disease is a genetic disorder that can lead to a variety of symptoms depending on the type. While the external reproductive anatomy may appear to be female, some or all of the pair of sex chromosomes, which typically determine the physical characteristics of reproductive anatomy, may be missing the second X chromosome. Liehr T, Al-Rikabi A. Mosaicism: reason for normal phenotypes in carriers of small supernumerary marker chromosomes with known adverse outcome. Mosaic Turner syndrome is a developmental abnormality involving the sex chromosomes. Manage cookies/Do not sell my data we use in the preference centre. Iourov IY, Vorsanova SG, Yurov YB. FISH on metaphase plates of a girl with an isochromosome X; a FISH with DXZ1 and D1Z1 DNA probes (chromosome X/green signals and chromosomes 1/red signals, respectively); note X chromosome loss in two interphase nuclei (left and upper right) indicating this case to be mosaic; b one-color FISH with DXZ1 DNA probe demonstrating isochromosome to be dicentric. I'm young and versatile, A tech enthusiast. 2016;116(11):8691. Hum Genet. This may be explained by the fact that gonosomal mosaicism is a phenomenon with global relevance to biomedicine [28]. Levitsky LL, Luria AH, Hayes FJ, Lin AE. Provided by the Springer Nature SharedIt content-sharing initiative. Mosaic Turner syndrome, mosaicism, or Turner mosaicism is where the abnormalities occur only in the X chromosome of some of the body's cells. She has been working in the field of genetics for more than 16 years. Ring chromosomes (Fig. Some people may not even realize they have this condition until puberty or later in life. In the neurodevelopmental context, it is important to mention the involvement of mosaic X chromosome monosomy in neuropsychiatric diseases. Genomic copy number variation affecting genes involved in the cell cycle pathway: implications for somatic mosaicism. Her father is Mexican-American, while her mother is Danish. Keep reading to find out more about Turner syndrome and celebrities with Turner syndrome who didn't let this condition stand in their way to greatness. 2012;171(3):5219. Neurosci Behav Physiol. Vorsanova SG, Iourov IY, Beresheva AK, Demidova IA, Monakhov VV, Kravets VS, Bartseva OB, Goyko EA, Soloviev IV, Yurov YB. During the diagnostic process, you may hear the term intersex.. This article will introduce you to the top ten celebrities with Turner syndrome. In the case of Turner syndrome, the term intersex relates to genetic material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. Vorsanova SG, Yurov YB, Iourov IY. Kennedy SR, Loeb LA, Herr AJ. This treatment is beneficial during childhood and adolescence. Somatic gonosomal mosaicism manifesting as aneuploidy is a contributor to the pathogenesis of numerous diseases [7, 34,35,36,37]. Micronuclei and genome chaos: changing the system inheritance. In mosaic Turner syndrome, an X chromosome is missing in some cells in people assigned female at birth. The data of this study are all included in the article. She's semi-retired now and was hospitalized after she met an on-stage accident in 2004. Is there a treatment for mosaic Turner syndrome? Abstract. Google Scholar. PubMed Central 2019;20(4):938. In the past, the term hermaphrodite was used instead of intersex. This term is now outdated and considered very offensive. Thus, TSM has been occasionally addressed in the context of neurodevelopmental disorders and molecular cytogenetic analysis of TSM in related clinical cohorts. Google Scholar. Berglund A, Stochholm K, Gravholt CH. X-chromosome-specific probe (DXZ1) was used in all the cases suggested to be affected by X chromosome monosomy (mosaic and non-mosaic). This error can occur in sperm or eggs, with each cell containing one complete and one mutated copy. (2017 . Type above and press Enter to search. What Is Autosomal DNA and What Can Yours Tell You? Actress Jessica Alba 7https://en.wikipedia.org/wiki/Jessica_Alba, 8. Google Scholar. She was also diagnosed with Turner syndrome. PubMed PubMed Central Turner syndrome is a chromosomal condition involving a persons sex chromosomes. Turner syndrome is most known as the ailment that caused Ringo Starr's finger to be shorter than the other Beatles', but it is much more than that. Some patients additionally opt to take estrogen, a feminine hormone that is necessary for sexual development. celebrities with klinefelter syndrome. 2015;2015:757680. Mosaic Turner syndrome: Also called 45,X mosaicism, this type makes up about 30% of Turner syndrome cases. 2010;11(6):4205. Failure to start puberty is yet another common symptom. 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. Quantitative fluorescence in situ hybridization (QFISH). With frequent care and effective treatment, most girls and women will live stable, independent lives. She is currently semi-retired and was hospitalized following an on-stage mishap in 2004. Turner syndrome is rare. We are sorry that this post was not useful for you! Nicole Prescovia Elikolani Valiente was born on June 29, 1978, to Donna (ne Lau) and Joseph Valiente. Despite the interest in studying (somatic) chromosomal mosaicism, Turners syndrome mosaicism (TSM) remains to be fully described. 2009;2:23. Instead, treatment aims to address whatever signs or symptoms a person with Turner syndrome is experiencing. 214 followers View more on Instagram Like 5 likes uofucompliance With Red Rocks competing for another trip to NCAA champs this weekend, we remember a Ute great. Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome. 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. Turners syndrome). Most people with mosaic Turner have either reduced fertility or infertility. Life . Google Scholar. Many Turner syndrome newborns are born with heart abnormalities or even moderate structural irregularities in their hearts, increasing their risk of serious consequences. I carry out deep research on every topic I choose to write about. Google Scholar. Learn about its uses, safety, and potential downsides here. In addition to these symptoms, a person with mosaic Turner syndrome may have certain physical characteristics, including: Again, these symptoms may be milder than people experience with complete Turner syndrome. 2007;116(3):1815. Theres no cure for Turner syndrome. Turner syndrome is a rare condition caused by an abnormal sex chromosome in a person assigned female at birth. By using this website, you agree to our Prof. IY Iourovs lab is supported by the Government Assignment of the Russian Ministry of Science and Higher Education, Assignment No. 1995;338(16):10713. An increased incidence of middle ear infections can potentially cause hearing loss. In 3 cases of mosaicism for iX(q), FISH analysis hasrevealed that isochromosomes are dicentric (Fig. Turner syndrome is associated with short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, infertility, congenital malformations of the heart, endocrine . It's been more than 16 years since she started practicing in the field of genetics. PubMed Central 4) have been revealed in 5 girls (0.1%). 1938;23:56674. Somatic chromosomal mosaicism was evaluated using fluorescence in situ hybridization (FISH) with chromosome-enumeration and site-specific DNA probes. 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]. It is not the same as AIDS or cancer. 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. Ross J, Zinn A, McCauley E. Neurodevelopmental and psychosocial aspects of Turner syndrome. 2017;95(12):3119. 2000;6(2):13541. Working group of the ACMG Laboratory Quality Assurance Committee. 2014;26:1419. She started her career as a singer, but made her Hollywood debut with an appearance in the Popeye film version. CAS Irish Actress, Saoirse Ronan 8https://en.wikipedia.org/wiki/Saoirse_Ronan, 9. There is no cure for Turner Syndrome, however, accompanying symptoms can be treated. Whats the outlook for people who have mosaic Turner syndrome? She is most recognized for her portrayal of Briony Tallis in Atonement (2007), for which she garnered a BAFTA Award nomination, among other honours. Bhles H. Ullrich-Turner-Syndrom, 19291938. Since the beginning of the last century, Turners syndrome has been systematically described in clinical and cytogenetic aspects [1,2,3]; the syndrome is occasionally designated as Shereshevsky-Turner syndrome in Russia and as Ullrich-Turner syndrome in Germany [1, 3]. 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. neurodevelopmental disorders and congenital anomalies), whereas marker chromosome database describes the distribution of derivative chromosomes among individuals with a specific phenotype (i.e. How do celebrities get their teeth so white? Here, we present the results of studying TSM in a large cohort of girls with neurodevelopmental disorders and a hypothesis highlighting the diagnostic and prognostic value. PubMedGoogle Scholar. Melody Rasouli 1 , Katherine McDaniel 2 , Michael Awadalla 2 , Karine Chung 2 Affiliations 1 University of Southern California Keck School of Medicine, Los Angeles, CA, USA. Ontogenetic variation of the human genome. Are you looking for a way to calculate how many calories youve burned during your, Get the latest creative news from Healthsoothe about health and dentalcare. Jessica Marie Alba was born on April 28, 1981, in Los Angeles, California, to Catherine (ne Jensen) and Mark David Alba. https://doi.org/10.1186/s13039-021-00529-2, DOI: https://doi.org/10.1186/s13039-021-00529-2. 2023 Getty Images. The X chromosome will be missing even when the embryo grows and its cells divide. If, based on signs and symptoms, the doctor suspects that your child has Turner syndrome, a lab test will be done to analyze your child's chromosomes. On the problem of multiple developmental anomalies and their relation of the endocrine gonads. Turner syndrome results when one of the X chromosomes (sex chromosomes) is missing or partially missing following conception. CAS Iourov IY, Vorsanova SG, Yurov YB, Kutsev SI. Selected for the bichampion team, she won a number of awards and even defeated Sabrina Mar. 2020;10:1368. Printzlau F, Wolstencroft J, Skuse DH. Super Appetite Drug: Uses, Health Benefits And Side Effects. However, people with mosaic Turner syndrome are likely to be assigned female at birth and may never display any intersex characteristics outside of changes to their second X chromosome in some cells of their body. Last medically reviewed on September 22, 2022. Bajic VP, Essack M, Zivkovic L, Stewart A, Zafirovic S, Bajic VB, Gojobori T, Isenovic E, Spremo-Potparevic B. In certain women, Turner syndrome might result in gluten sensitivity (celiac disease) or irritable bowel syndrome. Eur J Pediatr. We avoid using tertiary references. Article Grow your brand authentically by sharing brand content with the internets creators. This syndrome is also referred to as Mosaic Turner Syndrome and Ullrich-Turner Syndrome and is a genetic condition that affects the sexual development in females. Demirhan O, Tatemir D. Chromosome aberrations in a schizophrenia population. This American singer and actress are one of the turner syndrome celebrities that have built a name for themselves in Hollywood. TSM manifested as mosaic aneuploidy (45,X/46,XX; 45,X/47,XXX/46,XX; 45,X/47,XXX) affected 47 girls (1.2%). 2001;23(Suppl 1):S1915. American Gymnast Missy Marlowe 2https://en.wikipedia.org/wiki/Missy_Marlowe, 3. Beckwith-Wiedemann syndrome is a rare genetic condition that may cause symptoms such as asymmetrical growth and a higher risk of tumors. People with this condition may have a range of health and development issues, but they generally may lead healthy lives. volume14, Articlenumber:9 (2021) There are definitely others, but she is the only one I know of. 1925;1:295301. 1995;57(5):114350. Keep reading to learn more about what causes mosaic Turner syndrome, what the symptoms might be, and what treatments are available. Write by: . emekdoger@hotmail.com. Yurov YB, Vorsanova SG, Demidova IA, Kolotii AD, Soloviev IV, Iourov IY. Article Tuke MA, Ruth KS, Wood AR, Beaumont RN, Tyrrell J, Jones SE, Yaghootkar H, Turner CLS, Donohoe ME, Brooke AM, Collinson MN, Freathy RM, Weedon MN, Frayling TM, Murray A. Mosaic Turner syndrome shows reduced penetrance in an adult population study. She was born in Scotland in 1947 and is most known for her roles in The Krankies Klub (1982), The Krankies Elektronik Komik (1985), and TV's Funniest Music Moments (2008). The remainder is associated with mosaic aberrations of chromosome X (e.g. Mol Cytogenet 14, 9 (2021). Hormone replacement therapy is the most effective, Teen females are frequently given growth hormone to help them grow taller; they may also be given androgen in tiny doses to help them, Natural & Herbal Remedies for Carpal Tunnel Syndrome: Storey Country Wisdom Bulletin A-245. Curr Genom. Read Also:Celebrity Bio Dr. Lynette Nusbacher Early Life, Career, and Transition. Guttenbach M, Koschorz B, Bernthaler U, Grimm T, Schmid M. Sex chromosome loss and aging: in situ hybridization studies on human interphase nuclei. According to the available literature, there have been significant efforts for uncovering genotypephenotype correlations in cohorts of females suffering from Turners syndrome with special attention to mosaic cases [6, 8,9,10,11]. Wolff DJ, Van Dyke DL, Powell CM. Our website services, content, and products are for informational purposes only. Despite being physiologically female, the presence of Y chromosomal material increases their chances of acquiring gonadoblastoma, a kind of cancer, Flacc Scale | A Tool for Determining Pain Levels In Anyone (even though the person cant speak), There is no cure for Turner Syndrome, however, accompanying symptoms can be treated. So far, this is the sole syndrome associated with non-mosaic monosomy in human [5, 6]. Correspondence to She competed under the artistic gymnastics and became part of the US team that competed in the Pan American Games in Indianapolis. Our experts continually monitor the health and wellness space, and we update our articles when new information becomes available. Melissa Anne "Missy" Marlowe - American Gymnast 2. Getting the World Champion Gymnast title was one of her most notable achievements. Ultrasound may also help doctors diagnose Turner syndrome during pregnancy. Somatic cell genomics of brain disorders: a new opportunity to clarify genetic-environmental interactions. Regular Turners syndrome-associated karyotypes were detected in 35 girls (0.9%). 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. However, you may not know already that this American TV, film, and stage actress is among the list of celebrities with Turner syndrome. At 4-foot 8-inches tall, she was born with Turner syndrome. She had a difficult birth and was diagnosed with TS at birth. Turner syndrome can cause a variety of medical and physical issues, including low height, ovarian failure, and cardiac anomalies. Thus, TSM may be an element of pathogenic cascades in brain diseases (i.e. She has now retired and is serving as a spokesperson in the Turner Syndrome Society. Top 5 Celebrities Suffering From CARPAL TUNNEL, Top 5 Celebrity Hairdos Achievable with Hairpieces, Top 10 Celebrities with Spinal Injuries | Updated 2022. Mech Ageing Dev. Mosaic Down syndrome is a rare form of Down syndrome a genetic condition that causes an extra chromosome to appear in a person's DNA. Interphase FISH with DXZ1 and D1Z1 DNA probes (chromosome X/green signals and chromosomes 1/red signals, respectively); a case of monosomy/disomy mosaicism; b case of monosomy/disomy/trisomy mosaicism. Collect, curate and comment on your files. Cytogenet Genome Res.