Down’s syndrome – gain of extra copy of chromosome 21 (trisomy 21) It was first described by Langdon Down (1866). The coexistence of double aneuploidy is very rare; Down-Turner published reports showed mosaicism related to two or more cell lines; the first case was reported in 1971 [1–3]. Delayed psychomotor development was noted, achieving a sitting position at 10 months and standing at 24 months. Clinical diagnosis of Down syndrome is at birth, according to the characteristic phenotypic traits. ADVERTISEMENTS: Some of the major Differences between Turner’s syndrome and Klinefelter’s Syndrome are as follows: Character Turner’s Syndrome Klinefelter’s Syndrome 1. The Turner syndrome is … Down syndrome is the most common genetic cause of learning disability. Turner syndrome affects only females as the result of a missing or partially missing X chromosome, causing a variety of medical and developmental problems. We will be providing unlimited waivers of publication charges for accepted research articles as well as case reports and case series related to COVID-19. These can be explained by saying that both the terms are problems related to the sex chromosomes, as in the earlier one there is lacking of one of the sex chromosomes and so-called as monosomy (2n-1), while the latter consist of the extra sex chromosome and so-called as trisomy (2n+1). TS was first described in the United States in 1938 by Dr. Henry Turner. Reference: 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).Signs and symptoms may include short … In general, women with Turner syndrome have female sex characteristics, but these characteristics are underdeveloped compared to the typical female. Short stature at birth and edema of hands and feet are clinical features that suggest Turner syndrome. Karyotype showed 47,X,r(X),+21 . Turner syndrome is a chromosomal disorder that affects only females. This type of Down syndrome occurs when the two chromosomes 21 that originate from the mother fail to divide (or separate) and instead incorporate into either the mother’s egg or the father’s sperm (hence why this type is also known as non-disjunction). The presence of one chromosome in triplicate (2n + 1) is called as trisomy. People with translocation Down syndrome still share the same health issues and learning problems with people with other types of Down Syndrome. The best one gets 25 in all. Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Subsequently, other reports of cases of trisomy 21 combined with Turner syndrome showed different cytogenetic variants [4–9]; the most frequent was mosaicism of two clonal lines, one clone with trisomy 21 and another with X monosomy, with an incidence of 1 in 2,000,000 births . where chromosome 21 become trisomy. Read more about the genetic cause of Turner syndrome. Turner syndrome is a female-only genetic disorder that affects about 1 in every 2,000 baby girls. down syndrome is an autosomal disease. At puberty (usually at age 8 to 14), a girl with Turner syndrome will not have the normal growth spurt, even with female oestrogen hormone replacement (HRT). The main difference between the trisomy 13 and 18 is that, in trisomy 13 or Patau syndrome, the defect is in chromosome 13, but in trisomy 18 or Edward syndrome, the defect is in chromosome 18. Therefore, there are 45 chromosomes in each cell of the body instead of the usual 46. Down syndrome, Turner syndrome, and Klinefelter syndrome: Primary care throughout the life span October 2004 Primary Care Clinics in Office Practice 31(3):627-48, x-xi Trisomy 21 (Down syndrome) Trisomy 18 (Edwards syndrome) Trisomy 13 (Patau syndrome) SEX CHROMOSOME ANEUPLOIDIES: 45,X (Turner syndrome) 47,XXY (Klinefelter syndrome) 47,XXX (Triple X syndrome) 47,XYY (XYY syndrome) ENHANCED SEQUENCING SERIES (CLINICALLY RELEVANT MICRODELETIONS AND ANEUPLOIDIES) 22q (DiGeorge syndrome) 5p (Cri-du-chat syndrome) 1p36 deletion syndrome… We’ll explain the causes, symptoms, and outlook of this condition. Deletions- A portion of the chromosome is completely lost. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality, Genetics Division, Instituto Nacional de Salud del Niño, San Borja, Peru, School of Medicine, Universidad Peruana de Ciencias Aplicadas, Lima, Peru, M. M. Cohen and R. G. Davidson, “Double aneuploidy (47,XX,21+-45,X) arising through simultaneous double non-disjunction,”, P. L. Townes, M. R. White, S. J. Stiffler, and K. Goh, “Double aneuploidy. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Down-Turner syndrome has never been reported in Latin America and we did not found any report of double monoclonal chromosomal abnormality with trisomy 21 plus structural abnormality of the X chromosome. It isn't linked to the mother's age. In trisomy, an additional chromosome is present in the genome. In Down syndrome, an extra chromosome 21 is present, so it is also called trisomy 21. Turner syndrome and Mosaic Turner syndrome are not anyone’s fault. The risk rises with maternal age from 1 in 1400 pregnancies below age 25, to 1 in 350 at age 35, to 1 in 200 at age 40. Overall, the most common chromosomal disorder is Down syndrome (trisomy 21). Usher syndrome affects approximately 4 to 17 per 100,000 people, 1, 2 and accounts for about 50 percent of all hereditary deaf-blindness cases. Turner syndrome is an example of monosomy while Down syndrome is an example of trisomy. After this, their growth slows down. It results from an unequal sharing of sex chromosomes soon after fertilization. Down syndrome is not a disease or an illness that can be cured. Babies with Turner syndrome may grow at a normal rate until they're 3 years old. Down syndrome is the most common genetic condition in the United States. Identify a Mendelian disorder from the following a) Down’s syndrome b) Klinefelter’s syndrome c) Turner’s syndrome d) Phenylketonuria 7. Genotype 44 + X0 44 + XXY 2. Reference: 1.“Monosomy.” Chloe was born with Down syndrome and her husband, Jason, is autistic. It involves a lack of part or all of a second sex chromosome in some or all cells. Please enter the OTP sent to your mobile number: Get copy of last few answers in your mail, The advantages of the cell protoplasm being colloidal in nature. She presented lymphedema of hands and feet and jaundice requiring phototherapy from second to fourth day of life. The term "monosomy" is used to describe the absence of one member of a pair of chromosomes. 3. Sex Sterile Female Sterile Male 3. mitosis, meiosis, line. Down syndrome affects people of all economic, educational, cultural, ethnic and racial categories. Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. TS affects only women and girls and affects every woman or girl differently. In trisomy, an additional chromosome is present in the genome. Difference betweeen Klinefelter Syndrome and Turner Syndrome Klinefelter in 1942 reported an abnormal male syndrome, which came to be known as Klinefelter syndrome . Triple X syndrome Down Syndrome Edward Syndrome Turner syndrome Klinefelter Syndrome. Sign up here as a reviewer to help fast-track new submissions. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. You may hear a lot of people mention Asperger’s syndrome in the same breath as autism spectrum disorder (ASD).. Asperger’s was once considered different from ASD. The coexistence of double aneuploidy is very rare; Down-Turner published reports showed mosaicism related to two or more cell lines; the first case was reported in 1971 [1–3]. In mitosis, the main difference between plant and animal cells is that plants do not undergo cytokinesis. The incidence of Down syndrome is 1 in 700 newborns, while the incidence of Turner syndrome is 1 in 5,000 births. He suffers from a) Down’s syndrome Gioconda Manassero-Morales, Denisse Alvarez-Manassero, Alfredo Merino-Luna, "Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality", Case Reports in Pediatrics, vol. Research goals at MGHfC. Sex Characters Undeveloped ovaries and breasts, small uterus, absence of menstruation, absence of sex chromatin, narrow hips. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). In the first pediatric control, at one month, generalized hypotonia was detected, and physical therapy was recommended. Pathological short stature from birth, delayed psychomotor development, and the presence of certain dysmorphic features should alert the pediatrician to request a cytogenetic study. What are the symptoms of Parsonage Turner syndrome? Considering mosaic Turner syndrome is a condition that may adversely impact an individual’s overall physical development, several of her body's systems may demonstrate issues later in life. 2016, Article ID 8760504, 3 pages, 2016. https://doi.org/10.1155/2016/8760504, 1Genetics Division, Instituto Nacional de Salud del Niño, San Borja, Peru, 2School of Medicine, Universidad Peruana de Ciencias Aplicadas, Lima, Peru. Peripheral blood karyotype by cytogenetic banding G analysis showed 47,X,r(X),+21  (Figure 1). Turner Syndrome and Down Syndrome Diagnosing Turner's Turner Syndrome Down Syndrome Three Types of Down Syndrome Most common chromosomal anomaly Incidence of 1 in 600 or 1 in 900 live births Newborns puffy hands and feet redundant nuchal skin suspected if edema or hypoplastic Woman or girl differently, small uterus, absence of sex chromosomes but these characteristics are compared! 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