Adapted from an image from Penn State Biology. Monosomy is the absence of one chromosome from a pair of homologous chromosomes. (2) A scientific or theoretical system for. 8%, and major birth defects in 3. In total, 431 patients with at least two clonal abnormalities were analyzed; 231 (54%) were men and 200 (46%) were women. Role of Genetics. Rapid progression is common, and prognosis is generally poor. Each eukaryotic species has its nuclear genome divided among a number of chromosomes that is characteristic of that species. 5 percent of the total DNA in cells. Numeric abnormalities, or. Affected females can potentially develop a wide variety of symptoms involving many different organ systems. The science of classification of diseases. This rare chromosome abnormality is. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). no·sol·o·gy. 59 became effective on October 1, 2023. Rarer abnormalities include unilateral renal hyperplasia. Disease Overview. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). The hexaploid T. The disorder is characterized by unusually slow growth before and after birth);. However, co-occurrence of these two abnormalities in an individual along with a third cell line and absence of numerical anomaly is extremely rare. Definition. Even in a case of a live born with molecularly confirmed monosomy 21 [], mosaicism could not be ruled out. It causes a variety of symptoms and features, like short stature and issues with ovary function. a) Cells count the number of chromosomes they have and will undergo apoptosis when the chromosome number is incorrect. Introduction The single most common cause of miscarriage is genetic abnormality. The difference in X chromosome dosage between the two sexes is compensated by mechanisms that regulate X chromosome transcription. Associated symptoms and findings may vary greatly in range and severity from case to case. When this happens, one gamete shows monosomy, and the other shows trisomy of the same chromosome. Studies over the past decade have revealed numerous overlapping and nonoverlapping genetic abnormalities in the myeloma cell and have elucidated their impact on patient outcome. Chromosome 13 abnormalities are frequently observed in multiple myeloma (MM). TERT promotor mutation. nosomania: ( nos'ō-mā'nē-ă ), A rarely used term for an unfounded morbid belief that one is suffering from some special disease. Cite this page: "nosonomy" – WordSense Online. Trisomy 13 (Patau syndrome). Any change in the number of chromosomes could affect the outcome of a pregnancy. The result of nondisjunction is aneuploidy, which is when cells contain either an extra or missing chromosome. 1p36 deletion syndrome is a chromosome disorder that typically causes severe intellectual disability. It shows annotated bands and sub-bands as used for the nomenclature of chromosome abnormalities including partial monosomies. In addition to ERBB2, genes involved in breast-cancer pathophysiology that are located on chromosome 17 include tumour-suppressor genes P53 and BRCA1, and the gene for topoisomerase IIα (TOP2A; figure 3). Nosology. Chromosome 10q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 10. fusion D. Nondisjunction may occur any time a cell divides, so it can happen during. At the same time, aneuploidy can provide a growth advantage under. The science of classification of diseases. Since the introduction of cell-free DNA (cfDNA) testing and massively parallel. During each cell division, 50-200 base pairs of DNA are lost from the telomere ends of the chromosomes, and chromosomal shortening eventually leads to replicative senescence. . Nondisjunction may occur any time a cell divides, so it can happen during. Such cells are called Facultative dividers. Abstract. They may also have other health problems such as heart or kidney problems. ) Though girls born with Turner syndrome. Turner syndrome is a sporadic monosomy disorder (i. For instance, human somatic cells with chromosome numbers of ( 2 n − 1) = 45 or ( 2 n + 1) = 47 are aneuploid. If there’s an extra chromosome copy (trisomy) you’ll have 47. 1 Telomerase is an enzyme, comprising an RNA component (ie,. We describe 10 new patients, all examined by single nucleotide polymorphism (SNP) genotyping and G-banded karyotyping. the branch of medicine dealing with the systematic classification of diseases. A cell or an organism exhibiting monosomy is referred to as tetrasomic. Triploidy is a rare chromosomal abnormality. Related words - Nosonomy synonyms, antonyms, hypernyms, hyponyms and rhymes. Ring chromosome 22 is a rare genetic condition resulting when one chromosome 22 forms a circular, or ring, structure. A structural abnormality means the chromosome's structure has been altered in one of several ways. The rare errors often lead to cell death, cell cycle arrest, or impaired proliferation. nosonomy synonyms, nosonomy pronunciation, nosonomy translation, English dictionary definition of nosonomy. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. If a cell is missing one or more chromosomes, it is said to be aneuploid ( an - = not, "not good"). A complete monosomy syndrome in female humans is seen in Turner syndrome (Monosomy X; 45,X or 45,X0) associated with either a missing or altered. Prognostic factors seem to be more important in ALL than in AML. Study with Quizlet and memorize flashcards containing terms like Females with an extra X chromosome have the genotype _____ and are said to have _____ syndrome. Hence, a true incidence of the disorder may be difficult to estimate. Each chromosome has a centromere (CEN), region which contains the kinetochore, a micro-tubule organising centre (MTOC) responsible for attachment of the chromosome to the spindle apparatus at mitosis. Pronunciation of Nosonomy and its etymology. Definition of Nosonomy in the Fine Dictionary. Occurring in approximately 1 in 5,000 live births, monosomy 1p36 is the most common terminal deletion observed in humans. 2 to the entire short arm. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Initially provided as an alternate to evaluation of serum analytes and nuchal translucency for the evaluation of pregnancies at high-risk of Trisomy 21, cell-free DNA (cfDNA) screening for fetal aneuploidy, also referred to as non-invasive prenatal screening (NIPS), can now also screen for fetal sex chromosome anomalies (SCAs) such as monosomy X as early as 9. Most people have two copies of chromosome 21, while those with three copies of. Abstract. noso-+ -nomy. Our case demonstrates the need for close prenatal monitoring and diagnosis. We conducted a retrospective study of electronic medical records (EMR) for individuals with monosomy X with Y chromosome material who were seen in outpatient clinics at Children’s Hospital Colorado or Nationwide Children’s Hospital between 2005–2019. 59 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. So, instead of the usual 46 chromosomes in each cell of the body, there may be 45 or 47 chromosomes. [ noso- + G. Study with Quizlet and memorize flashcards containing terms like Aneuploidy is a change in the number of chromosomes resulting from nondisjunction during meiosis, Monosomy occurs when an individual has only one of a particular type of chromosome. 7. [1] [2] This means that various genetic lines resulted from a single fertilized egg. Three main subtypes include:It can be seen in Table 4 that day 3 embryos demonstrated almost equal maternal and paternal contributions to monosomies, at 48. Q93. Down syndrome: This syndrome is a type of trisomy as there is an extra copy of chromosome 21. The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation ( Shapira et al. Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder caused by a sex chromosome monosomy, compared to the two sex chromosomes (XX or XY) in most people, it only affects women. Having too many or too few chromosomes is a cause. If you’re missing a chromosome copy (monosomy), you’ll have 45. [71] and later was delineated by Gonzalez and colleagues [29]. Monosomy. Previous section; Next section > Signs & Symptoms. Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. This is the American ICD-10-CM version of Q93. So, instead of the typical 46 chromosomes in each cell of the body, there may be 45 or 47 chromosomes. It does not include a difference of one or more complete sets of. 13, 13-27 – 13-29, 13-31, 13-32, 13-34 – 13-36 Announcements: See homepage for announcements regarding the exam. Noninvasive cell-free fetal DNA-based screening for fetal aneuploidy is considered as an acceptable screening option for fetal aneuploidy (trisomy 13, 18 and 21) in average-risk women carrying a single gestation. Monosomy and trisomy. Trisomy 8 mosaicism affects wide areas of chromosome 8, containing many genes, and can thus be associated with a range of symptoms. Last time, we talked about how aneuploids (aneuploid = organism in which a particularchromosome or chromosomal. Genetic mosaicism is a postzygotic mutation. gov, PharmGKB. Aging-related mosaic loss of ChrY (LOY) has been known for more than half a century, but it was constantly considered as a neutral karyotype related to normal aging. Affected females can potentially develop a wide variety of symptoms involving many different organ systems. (1992). EGFR amplification (A) is a feature of IDH wildtype glioblastoma, not meningioma. Chromosome 6 Ring is a rare disorder in which there is loss (deletion) of chromosomal material from both ends of the 6th chromosome and joining of the ends to form a ring. c) Monosomic chromosome cannot undergo mitosis correctly. Mosaicism or genetic mosaicism is a condition in which a multicellular organism possesses more than one genetic line as the result of genetic mutation. Study with Quizlet and memorize flashcards containing terms like What type of aneuploidy is responsible for Turner syndrome in humans? A) trisomy 13 B) trisomy 18 C) trisomy 21 D) monosomy XO E) monosomy YO, When nondisjunction occurs early in embryogenesis rather than gametogenesis, what would you expect in the resulting. The OCI-M2 is characterized by its small size, basophilic cytoplasm, and large nuclei, distinguishing it from the larger OCI-M1 cells. Identifying genes on each chromosome is an active area of genetic research. Monosomy 9p (also known as Alfi's Syndrome or simply 9P-) is a rare chromosomal disorder in which some DNA is missing or has been deleted on the short arm region, “p”, of one of the 9th Chromosomes (9p22. Classification of sick people into groups, whatever the criteria for the classification, and agreement as to the boundaries of the. Identifying genes on each chromosome is an active area of genetic research. An X chromosome is inactivated C. Learn more about the causes, symptoms, diagnosis, and treatment of this condition from the National Organization for Rare Disorders (NORD). See also neurodevelopmental disorder. An egg or sperm with ( n − 1) = 22 or ( n + 1. 9 may differ. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. Turner syndrome is a chromosome disorder in which a girl or woman has only one complete X chromosome. Turner Syndrome. In children with acute lymphocytic leukemia (ALL) or acute myeloid leukemia (AML), certain factors that can affect a child’s outlook (prognosis) are called prognostic factors. Monosomy 22 and inactivating mutations of NF2 are well-known genetic alterations of meningiomas. Genomic locations of chromosome 21 partial monosomies. The causes of monosomy begin in the parents of the affected offspring — something goes wrong in either mom or dad cells that produce gametes, or reproductive sex cells, with incorrect. Monosomy (the lack of one member of a chromosome pair) and trisomy (a triplet instead of the normal chromosome pair) are typically the result of nondisjunction during meiosis. Williams syndrome is a genetic condition that affects many parts of the body. [Gr. 1 AA confers a significant risk for morbidity and death as a result of its progressivenatural history and/or complications related to suboptimal therapy. Down syndrome (sometimes called Down’s syndrome) is a condition in which a child is born with an extra copy of their 21st chromosome — hence its other name, trisomy 21. However, a retrospective back-to-back comparison evaluating accuracy, efficacy, and incremental yield of CNV-seq compared. Chromosome 14q Deletion Syndrome is a rare congenital disorder. (noʊˈsɒl ə dʒi) n. Designations for sex cells are XX for female or XY for male, instead of as a number. The following are some of the gene count estimates of human chromosome 13. In contrast, if distinct cell lines derived from different zygotes, the term is now known as chimerism. The variation in the length of duplicated segment usually associated with monosomy of other genetic material which has resulted in confusion and as a result a so-called 4p. [from ORDO]monosomy: 1 n chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number Type of: chromosomal aberration , chromosomal anomaly , chromosonal disorder , chrosomal abnormality any change in the normal structure or number of chromosomes; often results in physical or mental. Therefore, elucidating the. nosonomy ( uncountable) The scientific classification of diseases. , 2007 ). monosomy: [ mon″o-so´me ] existence in a cell of only one instead of the normal diploid pair of a particular chromosome, seen in Turner's syndrome , monosomy 9p − disease , and various other conditions. As this animation illustrates, nondisjunction can occur either if the homologs fail to separate in meiosis I, or if the. Similarly, a normal human egg or sperm has just one set of chromosomes ( n = 23 ). 9. Identifying genes on each chromosome is an active area of genetic research. It results when one of the X chromosomes is missing, partially or completely. nosos, a. MeSH. They help doctors decide how intense treatment needs to be. As you will recall humans are 2n=46. Trisomy. 5 percent of the total DNA in cells. -->1 pair of gonosomes, or sex chromosomes: XX in the female, XY in the male. Chambers's Twentieth Century Dictionary Gr. Mosaic trisomy 22 appears more commonly in females. The patient may have an extremely prominent forehead (frontal bossing), enlargement of the back part of the head, low placement of. Here, we describe 16 siblings, the majority of which were phenotypically normal, from 5 families diagnosed with myelodysplasi. Introduction. (b) Physical. In our previous paperI’ we described several serious difficulties which arise when one attempts to build a realistic grand unified model based on Witten’ s upside. Cardiologists. Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit. Disease Overview. The deletions can vary in size from extremely small and involving only band 5p15. General anesthesia in adults with this disease has not been reported. Chromosome abnormalities can be numerical or structural. When one member is missing, it is called monosomy, whereas if there is an extra chromosome that joins a pair, trisomy. For example, a haploid human nucleus (i. Trisomy 18 (Edward syndrome). Other deletions of part of a chromosome. These defects include deletions, duplications, and inversions, which all involve changes in a segment of a single chromosome. b) Monosomy may unmark recessive lethals that are tolerated in heterozygotes carrying the wild-type allele. The only form of this. This deletion either happens de novo or a result of a parent having the chromosome abnormality. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number. Designations for sex cells are XX for female or XY for male, instead of as a number. What does monosomy mean? Information and translations of monosomy in the most comprehensive dictionary definitions resource on the web. Only around 5% of cases are due to translocation. They help doctors decide how intense treatment needs to be. ” The outcome of meiosis is the creation of. 2. Insertions and translocations involve two non-homologous chromosomes. The gain of one chromosome is called trisomy (2n+1). nosology. muj*. duplicated (trisomy) or absent (monosomy); an entire set of 23 chromosome pairs can be duplicated three (triploidy) or more (polyploidy) times; or one arm or part of one arm of a single chromosome may be missing (deletion). When your cells divide, your sex cells can copy abnormally, causing a trisomy. Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. Most infants with Chromosome 9, Partial Monosomy 9p have a normal birth weight and length. Prominent upper jaw with the small lower jaw. Very few human chromosome aneuploidies are seen in liveborn individuals; however, mosaic aneuploidy is better tolerated. n [= o ]-son'o-mi, n. Quote, Rate & Share. The overall analysis of more than 400 aneuploid PGS embryos showed a similar risk of occurrence of monosomy or trisomy for any specific chromosome. The amount of genetic material lost at the two ends of the chromosome may vary. A change in the number of chromosomes can cause problems with growth, development, and function of the body's systems. Segen's Medical Dictionary. Pregnancies with triploidy are usually miscarried. Trisomy 21 ( Down syndrome ). A numerical abnormality mean an individual is either missing one of the chromosomes from a pair or has more than two chromosomes instead of a pair. Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. Q99. Numerical abnormalities are a type of chromosome defect. Because the diagnosis of Turner syndrome involves. Because each chromosome contains hundreds of. The syndrome is "characterized by skin. , 1997 ). Orphanet. To be more specific, the loss of a single chromosome from a diploid genome is called monosomy (2n-1). Most of the time, even when chromosomal testing after a miscarriage shows that the baby was affected by aneuploidy, the aneuploidy does not recur in future. (noʊˈsɒl ə dʒi) n. Introduction. 13, p. 4. These views have been challenged with genome-wide association studies. See ‘Meaning & use’ for definition, usage, and quotation evidence. When your cells divide, your sex cells can copy abnormally, causing a trisomy. Klinefelter Syndrome. PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Crossing over occurs between nonhomologous chromosomes D. Signs. Turner syndrome is highly variable and can differ significantly from one person to another. The interpretation of cytogenetic results in MM is complicated by the number and complexity of the abnormalities, the methods used to detect them and the disease stage at which they are detected. Definition. Edwards Syndrome (Trisomy 18) Edwards syndrome (trisomy 18) is usually caused by an extra chromosome 18. A particular diploid plant species has 48 chromosomes, or two sets. Although parental risk factors for genetic disease, results of maternal cell-free DNA or biochemical marker screening, and/or sonographic findings associated with variably increased risks for aneuploidy are all considered in assessing. It belongs to a group of conditions known as "sex chromosome trisomies", with Klinefelter's syndrome being the more common type. Examples of sex chromosome abnormalities include monosomy X or structural abnormalities of the X chromosome such as. Homologous chromosomes fail to separate during meiosis I, A chromosome that is. nosos, a disease, onoma, a name. Abstract. Meaning of monosomy. Eight unrelated patients had a breakpoint between. Cytopenia involving ≥ 1 lineages. 17). , a disorder characterized by one chromosome missing from a pair) that occurs only in females, with an incidence of 1:2000 to 1:5000 live female births (Davenport et al. Surgeons. This is the American ICD-10-CM version of Q93. 451934. NIH makes no endorsements of tests or laboratories listed in the GTR. 2. The cat-like cry typically becomes less apparent with time. Edwards syndrome is characterized by low birth weight, an abnormally small head, and heart, kidney, and lung defects. Chromosome 6 Ring is a rare disorder in which there is loss (deletion) of chromosomal material from both ends of the 6th chromosome and joining of the ends to form a ring. _____ is the process by which haploid gametes form a diploid zygote. Associated symptoms and findings may vary greatly, depending upon the amount and location of lost chromosomal material and other factors. Causes. Main Difference – Euploidy vs Aneuploidy. nosology: ( nō-sol'ŏ-jē ), The science of classification of diseases. Disease Overview. Specific cytogenetic. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. About 15 to 20% of pregnancies end in spontaneous abortion, mostly in the first trimester, the most frequent cause being chromosomal abnormalities, with a prevalence of approximately 50% in spontaneous abortions. Clinical resource with information about Monosomy X and its clinical features, available genetic. They were. Study with Quizlet and memorize flashcards containing terms like Select all of the following that occur with nondisjunction. The incidence is estimated to be about 1:50,000 live-born infants. This process is referred to as: A. We used a genome-wide single nucleot. Summary of chromosome 21 partial monosomy cases. That’s why we’re available to help 24 hours a day, 7 days a week. The term "distal" means that the missing piece occurs near one end of the chromosome. Monosomy is represented as 2n-1 whereas trisomy is represented as 2n+1. 9 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. On this page. This page was last edited on 9 March 2020, at 20:13. Uniparental disomy (UPD) is the abnormal situation in which both members of a chromosome pair are inherited from one parent, and the other parent’s chromosome for that pair is missing. −7/del (7q) occurs as either a simple or complex cytogenetic abnormality. aestivum tolerates aneuploidy. A complete monosomy syndrome in female humans is seen in Turner syndrome (Monosomy X; 45,X or 45,X0) associated with either a missing or. They tend to be tall and lean and may have motor or language difficulties and/or menstrual issues, but more often there is no distinct phenotype. inversion 2 gene linkage 3 polyploidy 4 aneuploidy 5 methylation, What results if a fragment of a chromosome breaks off and then reattaches to the original chromosome at the same. Chromosome 7 spans about 159 million DNA building blocks (base pairs) and represents more than 5 percent of the total DNA in cells. However, in many cases, there is early. 13. Hence, a true incidence of the disorder may be difficult to estimate. They are a type of birth defect. The bone marrow failure (BMF) state of aplastic anemia (AA) is marked by cytopenias and ineffective hematopoiesis. Turner syndrome is classically characterized by the absence of one X chromosome copy (45 XO), with the missing chromosome most frequently (two-thirds) being the paternal one. In many animals, males have one X and females have two X chromosomes. Help support Wordnik (and make this page ad-free) by adopting the word nosonomy. Genes Number of genes. Learn how to say Monosomy with EmmaSaying free pronunciation tutorials. It is an illustration of aneuploidy, an uneven distribution in chromosome numbers. Preparing for the birth of a baby with Turner syndrome can be overwhelming and scary. The deletions occur near the end of the chromosome at a location designated 2q37. Cytogenetic evaluation using fluorescence in situ hybridization (FISH) at the time of diagnosis is essential for initial risk stratification in multiple myeloma. Chromosome. Osteoporosis and fractures are fairly common among women with Turner syndrome. The science of classification of diseases. This process is called “mitosis. Chromosome 7, Partial Monosomy 7p is a rare chromosomal disorder characterized by deletion (monosomy) of a portion of the short arm (p) of chromosome 7 (7p). Rarely, individuals diagnosed with MIRAGE syndrome have the disorder as the result of a variant inherited from a heterozygous parent with no apparent features of MIRAGE syndrome. Because researchers use different approaches to predict the number of genes on each. Sample collection. Monosomy refers to the presence of only one chromosome from the normal pair in the embryo. A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Chromosome 18q- syndrome (also known as Chromosome 18, Monosomy 18q) is a rare chromosomal disorder in which there is deletion of part of the long arm (q) of chromosome 18. -nSSfev. Identifying genes on each chromosome is an active area of genetic research. Identifying genes on each chromosome is an active area of genetic research. nosonomy(uncountable) The scientificclassificationof diseases. Nosology (from Ancient Greek νόσος (nosos) 'disease', and - λογία (-logia) 'study of') is the branch of medical science that deals with the classification of diseases. The 2024 edition of ICD-10-CM Q99. 8%, with overall perinatal mortality of 2. Answer: d. The number of chromosomes, as well as the number of chromosome sets, can vary due to various mechanisms that occur in the sexual reproduction. Further investigation on fibroblast cells using conventional chromosome and FISH analysis revealed two additional mosaic. 5 and 4 percent of the total DNA in cells. It can also lead to the addition of a chromosome and is known as trisomy, denoted as (n + 1) or (2n + 1). (a) Three regions proposed by Lyle et al, 2 separated by vertical dashed lines. MIRAGE syndrome is an autosomal dominant disorder typically caused by a <i>de novo</i> pathogenic variant. Chromosome 14q Deletion Syndrome is a rare congenital disorder. If self-fertilization occurs, the zygote will have _____ set (s) of chromosomes. Chromosome 10, distal trisomy 10q is an extremely rare chromosomal disorder in which the end (distal) portion of the long arm (q) of one chromosome 10 (10q) appears three times (trisomy) rather than twice in cells of the body. The phenotype associated with this chromosomal disorder varies widely, but most commonly includes language. Mutations - Nondisjunction. logos, study]Chromosome 1 is the largest human chromosome, spanning about 249 million DNA building blocks (base pairs) and representing approximately 8 percent of the total DNA in cells. In rare cases, an individual may have more than one additional chromosome. The classification of diseases, nosology. Uniparental disomy (UPD) results when both chromosomes of a pair are inherited from the same parent. The incidence is estimated to be about 1:50,000 live-born infants. 5% in live born individuals (1– 3). Jacobsen syndrome is caused by harmful genetic changes, also known as pathogenic variants. To study the consequences of monosomy in human cells, we analyzed monosomic cell lines derived from RPE1, a human hTERT. _____ is the process by which haploid gametes form a diploid zygote. b. b) Monosomy may unmark recessive lethals that are tolerated in heterozygotes carrying the wild-type allele. Yet, the developmental consequences of specific aneuploidies remain unexplored. Study with Quizlet and memorize flashcards containing terms like The condition that exists when an organism gains or loses one or more chromosomes but not a complete haploid set is known as ________. , Females with only one X chromosome have. Numerical abnormalities are one type of chromosome abnormality. Monosomy is an example of aneuploidy, which is an imbalance in chromosome numbers. We here reviewed 553. Fertilization. The definition of Turner Syndrome (TS) is “A chromosomal condition that usually describes girls and women with common features, physical traits, and medical conditions caused by the complete or partial absence of the second sex chromosome. Very few human chromosome aneuploidies are seen in liveborn individuals; however, mosaic aneuploidy is better tolerated. Case presentation We report a 37-year-old G1P0 woman. 16% (202/17,428).