Distal trisomy 10 is a rare

chromosomal disorder A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder, is a missing, extra, or irregular portion of chromosomal DNA. These can occur in the form of numerical abnormalities, where ther ...

that causes several physical defects and

intellectual disability Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by signifi ...

. Humans, like all sexually reproducing species, have

somatic cells A somatic cell (from Ancient Greek σῶμα ''sôma'', meaning "body"), or vegetal cell, is any biological cell forming the body of a multicellular organism other than a gamete, germ cell, gametocyte or undifferentiated stem cell. Such cells compo ...

that are in

diploid Ploidy () is the number of complete sets of chromosomes in a cell, and hence the number of possible alleles for autosomal and pseudoautosomal genes. Sets of chromosomes refer to the number of maternal and paternal chromosome copies, respectively ...

''2Nstate, meaning that N represent the number of

chromosome A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins are ...

s, and 2 the number of their copies. In humans, there are 23 chromosomes, but there are two sets of them, one from

mother ] A mother is the female parent of a child. A woman may be considered a mother by virtue of having given childbirth, birth, by raising a child who may or may not be her biological offspring, or by supplying her ovum for fertilisation in the cas ...

and one from

father A father is the male parent of a child. Besides the paternal bonds of a father to his children, the father may have a parental, legal, and social relationship with the child that carries with it certain rights and obligations. An adoptive fathe ...

, totaling in 46, that are arranged according to their size, function and genes they carry. Each cell is supposed to have two of each, but sometimes due to mutations or malfunctions during cell division, mistakes are made that cause serious health problems. One such error is the cause of Distal trisomy 10q disorder. Each chromosome has two arms, labeled p (for petite, or short) and q (for long). If both arms are equal in length, the chromosome is said to be

metacentric Metacentric may refer to: * Metacentric height The metacentric height (GM) is a measurement of the initial static stability of a floating body. It is calculated as the distance between the centre of gravity of a ship and its metacentre. A large ...

. If arms' lengths are unequal, chromosome is said to be

submetacentric The centromere links a pair of sister chromatids together during cell division. This constricted region of chromosome connects the sister chromatids, creating a short arm (p) and a long arm (q) on the chromatids. During mitosis, spindle fibers a ...

, and if p arm is so short that is hard to observe, but still present, then the chromosome is

acrocentric The centromere links a pair of sister chromatids together during cell division. This constricted region of chromosome connects the sister chromatids, creating a short arm (p) and a long arm (q) on the chromatids. During mitosis, spindle fibers a ...

. In Distal Trisomy 10q disorder, end or distal portion of the q (long) arm of the

number 10 appears to be present three times, rather than two times as it is supposed to be. This extra arm results in chromosome 10

trisomy A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two. A trisomy is a type of aneuploidy (an abnormal number of chromosomes). Description and causes Most organisms that reprodu ...

, meaning that three arms are present. Depending on the length of the aberrant arm, the severity can vary from case to case. Often the source of this chromosomal error is a translocation in one of the parents. Sometimes it occurs spontaneously, in which case it is termed '' de novo''. This syndrome has a large range of outcomes depending on how much chromosomal material is involved. Outcomes include: very slow postnatal growth,

hypotonia Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases a ...

, lack of coordination skills and mild to severe cases of

, digestive issues, and

heart The heart is a muscular organ in most animals. This organ pumps blood through the blood vessels of the circulatory system. The pumped blood carries oxygen and nutrients to the body, while carrying metabolic waste such as carbon dioxide t ...

and

kidney The kidneys are two reddish-brown bean-shaped organs found in vertebrates. They are located on the left and right in the retroperitoneal space, and in adult humans are about in length. They receive blood from the paired renal arteries; blood ...

problems. Individuals with this disorder can also be distinguished by their facial features. Number of support groups do exist in the

United States The United States of America (U.S.A. or USA), commonly known as the United States (U.S. or US) or America, is a country primarily located in North America. It consists of 50 states, a federal district, five major unincorporated territorie ...

, where affected families can meet and discuss problems they encounter, possible treatments and can find emotional support.

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{{Medical resources , ICD11 = {{ICD11, LD41.90 , ICD10 = {{ICD10, Q92.3 , ICD10CM = , ICD9 = , ICDO = , OMIM = , MeshID = C538087 , DiseasesDB = , SNOMED CT = 718689000 , Curlie = , MedlinePlus = , eMedicineSubj = , eMedicineTopic = , PatientUK = , NCI = , GeneReviewsNBK = , GeneReviewsName = , NORD = , GARDNum = , GARDName = , RP = , AO = , WO = , OrthoInfo = , Orphanet = 96102 , Scholia = Q5282839 , OB = Genetic disorders with no OMIM Syndromes Autosomal duplications

See also

References

External links