Similarly, a normal human egg or sperm has just one set of chromosomes ( n = 23 ). Disease Overview. The introduction of the integrated histomolecular diagnostic approach in CNS tumors has facilitated a classification system that is increasingl. See also: Disease and Illness -Ologies & -Isms. , 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. Classification of sick people into groups, whatever the criteria for the classification, and agreement as to the boundaries of the groups. 5 and 2 percent of the total DNA in cells. Answer: d. The convention when describing a person's karyotype (chromosome composition). Dysplastic changes in ≥ 1 lineages, involving at least 10% of cells. Identifying genes on each chromosome is an active area of genetic research. Approved By: Susan�Zneimer,�Ph. Fertilization. 8%, with overall perinatal mortality of 2. The term “mosaic” indicates that some cells contain the extra chromosome 22, whereas others have the normal chromosomal pair. Q99. Chromosome 16 spans more than 90 million DNA building blocks (base pairs) and represents almost 3 percent of the total DNA in cells. Triploidy is a rare chromosomal abnormality. nosonomy synonyms, nosonomy pronunciation, nosonomy translation, English dictionary definition of nosonomy. 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. Examples of sex chromosome abnormalities include monosomy X or structural abnormalities of the X chromosome such as. nosonomy: The classification and nomenclature of diseases. occurs when a diploid organism has only one copy of one of its. Identifying genes on each chromosome is an active area of genetic research. These key genes are located in regions that are often deleted (P53, BRCA1, TOP2A) or amplified (ERBB2, TOP2A). All rights reserved. DNA-based noninvasive prenatal tests of fetal Aneuploidy are proven and medically necessary as screening tools for Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) or Trisomy 13 (Patau syndrome), with or without fetal sexCytogenetic testing is the examination of chromosomes to determine chromosome abnormalities such as aneuploidy and structural abnormalities. Round low-set ears with deformities. Incidence (Adult): accounts for ~30% of MDS case s. Those with this karyotype and typical female genitalia are diagnosed with Turner syndrome; however, this definition specifically excludes those with ge. 13. The disorder is characterized by unusually slow growth before and after birth);. Abnormalities of chromosome 5 are common aberrations in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), being del (5q) the most frequent. [1] A trisomy is a type of aneuploidy (an abnormal number of chromosomes). Chromosome. 5 percent of the total DNA in cells. They were. Crossing over occurs between nonhomologous chromosomes D. Cytopenia involving ≥ 1 lineages. While a few children with Edwards syndrome survive to. In a 45,X male with a translocation (Y;11)(q11. -nSSfev. Meningioma is the most common intracranial tumor, arising from arachnoid cells of the meninges. Learn more about the causes, symptoms, diagnosis, and treatment of this condition from the National Organization for Rare Disorders (NORD). organisms that have two copies of each one of their chromosomes, one from their mother and one from their father. We used a genome-wide single nucleot. Turner syndrome (TS or monosomy X) is a genetic disorder that occurs in girls. Pregnancies with triploidy are usually miscarried. Individuals with trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight. 1920 - A practical medical dictionary. Chromosome 4 spans about 191 million DNA building blocks (nucleotides) and represents more than 6 percent of the total DNA in cells. [in this article the term is used as a cognate to the Russian nozologiia], traditionally a branch of pathology that comprised the following disciplines: (1) nosology. c. The complications of Chromosome 8p Deletion Syndrome may include: Severe emotional stress for parents and caregivers. Cardiologists. Other deletions of part of a chromosome. 23. Definition. A mutation occurs and gametes with 48 chromosomes are produced. In many animals, males have one X and females have two X chromosomes. Cytogenetic evaluation is an important step in the diagnosis of infertile or sterile animals. Study with Quizlet and memorize flashcards containing terms like Select all of the following that occur with nondisjunction. Having too many or too few chromosomes may cause. Therefore, elucidating the. Genes Number of genes. Abstract. Define nosonomy. The median age was 69 years (range 21–90 years). After meiosis I, each secondary spermatocyte. Study with Quizlet and memorize flashcards containing terms like Down syndrome results from the inheritance of a. Genes Number of genes. Background Full or partial monosomy of chromosome (chr) 21 is a very rare abnormal cytogenetic finding. logos, study]Chromosome 17 spans about 83 million DNA building blocks (base pairs) and represents between 2. The OCI-M2 is an erythroleukemic cell line derived from a 56-year-old patient with acute myeloid leukemia. So, instead of the typical 46 chromosomes in each cell of the body, there may be 45 or 47 chromosomes. Chromosome. In addition to classical presentations with progressive BMF during childhood and a positive chromosome breakage test in the blood, atypical clinical. They may have temper tantrums, bite themselves, or exhibit other. [71] and later was delineated by Gonzalez and colleagues [29]. A karyotype is the complete set of chromosomes of. 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. A partial is when there is only one copy of a segment of a chromosome present. That’s why we’re available to help 24 hours a day, 7 days a week. For example, a haploid human nucleus (i. The result of nondisjunction is aneuploidy, which is when cells contain either an extra or missing chromosome. Introduction The single most common cause of miscarriage is genetic abnormality. The International Society for Prenatal Diagnosis (ISPD) considers cell-free fetal DNA screening as a primary test for all. Turner syndrome is highly variable and can differ significantly from one person to another. Chromosome 19 spans about 59 million base pairs (the building blocks of DNA) and represents almost 2 percent of the total DNA in cells. Numerical abnormalities are one type of chromosome abnormality. INTRODUCTION. Since the introduction of cell-free DNA (cfDNA) testing and massively parallel. For many years, chromosome studies mainly addressed the livestock species, while recently, increasing interest in such. Disease Overview. nosology. 16% (202/17,428). Turner syndrome is a female-only genetic disorder that affects about 1 in every 2,000 baby girls. 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. Trisomy 13 (Patau syndrome). Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. If you’re missing a chromosome copy (monosomy), you’ll have 45. Excerpted from the GeneReview: PAX6 -Related Aniridia. Clinical resource with information about Partial monosomy of the short arm of chromosome 20 and its clinical features, available genetic tests from US and labs around the world and links to practice guidelines. Most patients present with petechiae, easy bruising, or anemia. Humans typically have two copies of each. Bình thường em bé gái sẽ có 2 nhiễm sắc thể X. nosos, a disease, onoma, a name. e. ) Though girls born with Turner syndrome. (1992). NIH makes no endorsements of tests or laboratories listed in the GTR. Trisomy 8 mosaicism affects wide areas of chromosome 8, containing many genes, and can thus be associated with a range of symptoms. Study Design and Participants. The presentation of symptoms may occur at or following the birth of the child. Triploidy is a rare chromosomal abnormality. GTR is not a substitute for medical advice. [1] [2] This means that various genetic lines resulted from a single fertilized egg. Monosomy. 13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Abstract. The region consistently missing in individuals with this disorder (JS) is band q24. The presentation of symptoms may occur at or following the birth of the child. Triploidy is the presence of an additional set of chromosomes in the cell for a total of 69 chromosomes rather than the normal 46 chromosomes per cell. 2-p23). In the commonest form of the disorder, the dysmorphic syndrome is very moderate and non-specific. 2. Turner syndrome is highly variable and can differ significantly from one person to another. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Cri du chat syndrome (CdCS or 5p-) is a rare genetic disorder in which a variable portion of the short arm of chromosome 5 is missing or deleted (monosomic). An X chromosome is inactivated C. _____ is the process by which haploid gametes form a diploid zygote. It causes many traits and problems. The science of classification of diseases. nosos, a disease, onoma, a name. 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. Trisomy 13 (Patau syndrome). no·sol·o·gy. Pregnancies with triploidy are usually miscarried. Transcriptome and proteome. GTR. Monosomy is an example of aneuploidy, which is an imbalance in chromosome numbers. Other deletions of part of a chromosome. Synonym (s): nosonomy, nosotaxy. Synonym(s): nosonomy , nosotaxy [noso- + G. 5% and 51. Definitions of NOSONOMY. Chromosome 19p deletion is a chromosome abnormality that occurs when there is a missing ( deleted) copy of genetic material on the short arm (p) of chromosome 19. 1p36 deletion syndrome is a chromosome disorder that typically causes severe intellectual disability. Monosomy rates observed in day 3 were compared to aneuploidy data for day 5. An egg or sperm with ( n − 1) = 22 or ( n + 1. Physical exam and history ( H&P) Progression and Transformation. The disorder is characterized by unusually slow growth before and after birth);. INTRODUCTION. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Chromosome loss that results in monosomy is detrimental to viability, yet it is frequently observed in cancers. Isochromosome in which the arms are mirror copies of each other. However, common features include growth deficiency; mental retardation; malformations of the skull and. Identifying genes on each chromosome is an active area of genetic research. Chromosome 21 is the smallest human chromosome, spanning about 48 million base pairs (the building blocks of DNA) and representing 1. A. Almost everyone with this disorder has distinctive facial features, including a broad nasal bridge, large and protruding. This process is referred to as: A. Identifying genes on each chromosome is an active area of genetic research. Classification of sick people into groups, whatever the criteria for the classification, and agreement as to the boundaries of the. 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. The cat-like cry typically becomes less apparent with time. Tumors of the central nervous system (CNS) often display a wide morphologic spectrum that has, until recently, been the sole basis for tumor classification. Fifteen FANC genes have been identified to date, the most prevalent being FANCA, FANCC, FANCG, and FANCD2. Patients and consumers with specific questions about a genetic test should. 5 to 2 percent of the total DNA in cells. Myelodysplastic neoplasms (MDS), previously called myelodysplastic syndromes, are clonal hematopoietic stem cell neoplasms characterized by ineffective marrow hematopoiesis that results in morphologic dysplasia and peripheral cytopenia; there is increased risk of transformation to acute myeloid leukemia (AML)Prenatal screening of fetal aneuploidy tests, based on sonography and maternal biochemistry findings, which has been focused on trisomy 21 and, recently, on trisomies 18 and 13, has a detection rate within 50–95% at a 5% false-positive rate [1, 2]. The duplication of some or all of the short (p) arm of chromosome 16 may cause: Poor growth of the fetus during pregnancy and of the infant after birth. 9 may differ. 72486-4. Two copies of chromosome 9, one copy inherited from each parent, form one of the pairs. Bookshelf ID: NBK559193 PMID: 32644619. Previous section; Next section > Signs & Symptoms. 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). 59 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. 5-33. net dictionary. Example sentences containing Nosonomy. Insertions and translocations involve two non-homologous chromosomes. [from ORDO] Term Hierarchy. Because researchers use different. The base. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Monosomy 22 and inactivating mutations of NF2 are well-known genetic alterations of meningiomas. Chromosome 14q Deletion Syndrome is a rare congenital disorder. The major features of this condition include distinctive facial features, sleep disturbances, behavioral problems, mild to moderate intellectual disability, and delayed speech and language skills. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number. Identifying genes on each chromosome is an active area of genetic research. e. Result Code. occurs when a diploid organism has only one copy of one of its. The 2024 edition of ICD-10-CM Q93. Jacobsen syndrome is caused by harmful genetic changes, also known as pathogenic variants. Quote, Rate & Share. This monosomy X pregnancy doubled the single X chromosome, leading to 45,X/46,XX mosaicism in the placenta and uniparental isodisomy X in the amniotic fluid. 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. Noninvasive prenatal testing (NIPT) is a screening test for fetal chromosomal aneuploidy using cell-free DNA derived from maternal blood. Autosomes are numbered according to. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. In total, 431 patients with at least two clonal abnormalities were analyzed; 231 (54%) were men and 200 (46%) were women. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. People with Turner syndrome have significantly. Associated symptoms and findings may vary greatly in range and severity from case to case. Disease Overview. . The 11q deletions are the most. When UPD encompasses an imprinted locus, both alleles show the characteristics of the retained allele. Nine of 10 different breakpoints identified were within a 5-Mb region on chromosome 9p23-p22 between D9S1869 and D9S162. A trisomy and a monosomy are types of numerical chromosome abnormalities that can cause certain birth defects. Using p53-deficient monosomic cell lines, we find that chromosome loss impairs proliferation and genomic stability. 1. Multiple myeloma accounts for 1% of all cancers and approximately 10% of all hematologic malignancies. Down syndrome: This syndrome is a type of trisomy as there is an extra copy of chromosome 21. Learn. 4. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number. Uveal melanoma is rare and has an age-adjusted incidence of 5. If a cell is missing one or more chromosomes, it is said to be aneuploid ( an - = not, "not good"). Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. -->1 pair of gonosomes, or sex chromosomes: XX in the female, XY in the male. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Most people with Smith-Magenis syndrome. 2. Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births ( Shaffer and Lupski, 2000; Heilstedt et al. Williams syndrome is a genetic condition that affects many parts of the body. 202 samples were NIPT positive with the detection rate was 1. _____ is the process by which haploid gametes form a diploid zygote. Definition of monosomy in the Definitions. MDS is usually diagnosed in. Common symptoms include a distinctive cry that resembles the. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Abstract. It was suggested that full monosomy 21 may not exist in live born and those reported cases of monosomy 21 are likely to be either mosaicism or. Meaning of Nosonomy with illustrations and. Medical geneticists. Aneuploidy is a genetic disorder where the total number of chromosomes doesn’t equal 46. Definition of Nosonomy in the Fine Dictionary. Turner syndrome may be diagnosed before birth. (noʊˈsɒl ə dʒi) n. Study with Quizlet and memorize flashcards containing terms like Species I has 2n=14 and species II has 2n=20. Blasts < 5% in bone marrow and < 2% in peripheral blood. [noso- + G. They are a type of birth defect. 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. Down Syndrome is probably the most well-known example of a chromosomal. Aneuploidy, the presence of an abnormal number of chromosomes, is a major cause of early pregnancy loss in humans. Twenty-two of the pairs are autosomes, and one. 5% in live born individuals (1–3). Monosomy refers to the presence of only one chromosome from the normal pair in the embryo. It might cause problems with hearing, vision and fertility. Chromosomal abnormalities can occur as an accident when the egg or the sperm is formed or during the early developmental stages of the fetus. Chromosomal abnormalities. Small round skull. 1 AA confers a significant risk for morbidity and death as a result of its progressivenatural history and/or complications related to suboptimal therapy. 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. It represents about 8% of the total DNA in human cells. A “chromosomal translocation” is the term used to describe when two parts of the puzzle thread join in a way that doesn’t fit. It occurs in about 1 in 100,000. Definitions and other text are available under the Creative Commons Attribution-ShareAlike License; additional terms may apply. (noʊˈsɒl ə dʒi) n. The following are some of the gene count estimates of human chromosome 13. There are differences between these mechanisms in terms of (i) impact on embryonic development; (ii) co-occurrence of mosaic trisomy and UPD and (iii) potential recurrence risks. 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. Epidemiology and Mortality. The main clinical features are short stature, round face with short philtrum, palpebral ptosis and large. See also: Disease and. 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. In many cases, individuals with mild signs and symptoms may be undiagnosed in their lifetime. Chromosome 21 Ring is a rare chromosomal disorder in which the affected infant has a breakage of chromosome 21 at both ends, and the ends of the chromosome join together to form a ring. Trisomy. Both 6q trisomy and 2q monosomy are rare chromosome abnormalities. Partial monosomy 11q syndrome is a rare chromosomal disorder in which a portion of the long arm of chromosome 11 is deleted (missing). The age of the mother and certain environmental factors may play a role in the occurrence of genetic errors. 18p- is a genetic condition caused by a deletion of all or part of the short arm (the p arm) of chromosome 18. Nine of 10 different breakpoints identified were within a 5-Mb region on chromosome 9p23-p22 between D9S1869 and D9S162. Related words - Nosonomy synonyms, antonyms, hypernyms, hyponyms and rhymes. 5 and 2 percent of the total DNA in cells. By definition, aneuploid cells have an abnormal number of chromosomes. This is the American ICD-10-CM version of Q93. What's already known about this topic? The false positive rate of detecting monosomy X by NIPT is higher than that of other autosomal aneuploidies, due in part to maternal mosaic monosomy X. Chromosome 18, Monosomy 18p is a rare chromosomal disorder in which all or part of the short arm (p) of chromosome 18 is deleted (monosomic). The Jacobsen syndrome is a clinically characteristic disorder due to deletion of the terminal band 11q23. It shows annotated bands and sub-bands as used for the nomenclature of chromosome abnormalities including partial monosomies. LECTURE 12: CHANGES IN CHROMOSOME NUMBER Reading: Ch. 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. Chào bạn, Với câu hỏi “ Xét nghiệm NIPT Monosomy X 60% khi mang thai 12 tuần có sao không? ”, bác sĩ xin giải đáp như sau: Kết quả sàng lọc NIPT của bạn nghi ngờ có bất thường Monosomy X với mức độ khảm 60%. The science of classification of diseases. MIRAGE syndrome is an autosomal dominant disorder typically caused by a <i>de novo</i> pathogenic variant. This band is known to harbor a heritable folate-sensitive fragile site (Sutherland and Hecht, 1985). Turner syndrome is a genetic disorder affecting some females. The bone marrow failure (BMF) state of aplastic anemia (AA) is marked by cytopenias and ineffective hematopoiesis. monosomic: [adjective] having one less than the diploid number of chromosomes. Genetic mosaicism is defined as the presence of two or more cell lineages with different genotypes arising from a single zygote in a single individual. MM is characterized by several cytogenetic abnormalities that occur at various time points in. Learn the definition of nosonomy. The disorder was first observed by Jacobsen et al. In contrast, if distinct cell lines derived from different zygotes, the term is now known as chimerism. 3p deletion syndrome is a condition that results from a chromosomal change in which a small piece of chromosome 3 is deleted in each cell. Genetic counseling and screening tests can help assess your risk of having a baby with certain genetic disorders. 23. This is the first reported case of true fetal mosaicism resulting in a live birth following the transfer of a known mosaic embryo. Abstract. CNS WHO grade 3 can be applied to meningiomas with either TERT promotor mutation or CDKN2A/B homozygous deletion. 5 and 3 percent of the total DNA in cells. [ noso- + G. Sister chromatids fail to separate during meiosis II B. Incidence (Childhood): most common MDS of childhood, ~50%. Here, we describe 16 siblings, the majority of which were phenotypically normal, from 5 families diagnosed with myelodysplasi. Chromosome 2 spans 243 million base pairs and makes up around 8% of the total DNA present within our cells. These studies demonstrated the significant contribution of unbalanced chromosomal karyotypes to pregnancy failure. Chromosome 8, Monosomy 8p is a rare chromosomal disorder characterized by deletion (monosomy) of a portion of the eighth chromosome. 59 became effective on October 1, 2023. Treatments usually involve physical and emotional therapy, as well as hormone replacement. Disease Overview. 18p-. Turner syndrome is a sporadic monosomy disorder (i. 9 became effective on October 1, 2023. The only form of this. This study evaluates 17,428 singleton pregnancies had undergone NIPT detection. Eight unrelated patients had a breakpoint between. 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. Meaning of Nosonomy with illustrations and photos. logos,. In recent years, men and boys are receiving diagnoses of Turner. Klinefelter syndrome is a common genetic condition in which people assigned male at birth (AMAB) have an additional X chromosome. The interpretation of cytogenetic abnormalities in multiple myeloma (MM) is often a challenging task. 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. It occurs in about 1 of every 50,000 births. The following are some of the gene count estimates of human chromosome 13. The presentation of symptoms may occur at or following the birth of the child. An isochromosome is an unbalanced structural abnormality in which the arms of the chromosome are mirror images of each other. During evolution, elaborate cellular mechanisms have evolved to maintain the correct chromosome content over generations. 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. Associated symptoms and findings may be variable, depending upon the specific length and location of the deleted portion of chromosome 4. The difference in X chromosome dosage between the two sexes is compensated by mechanisms that regulate X chromosome transcription. 1 (11q24. , only a single sex chromosome), corresponds to a female individual with short stature, webbed skin in the neck region, hearing and cardiac impairments, and sterility. The main difference between monosomy and trisomy is that monosomy is the presence of only one chromosome in a particular homologous pair whereas trisomy is the presence of an additional chromosome. 2,3 Without definitive treatment, mortalityfrom severe AA (SAA) approaches 70. When cells. Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. Features may affect many parts of the body and may include. Because researchers use different approaches to predict the number of genes on each. Features that often occur in people with. When one member is missing, it is called monosomy, whereas if there is an extra chromosome that joins a pair, trisomy. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. The deletions can vary in size from extremely small and involving only band 5p15. 6 Uniparental Disomy. Genetic disorders may be a physical problem or intellectual disability that is present at birth.