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Triple X syndrome
Classification and external resources
ICD-10 Q97.0
DiseasesDB 13386

Triple X syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The International Statistical Classification of Diseases and Related Health Problems 10th Revision ( ICD -10) is a coding of diseases and signs symptoms abnormal findings Q00-Q89 - Congenital malformations and deformations (Q00-Q07 Nervous system ( Anencephaly and similar malformations The Diseases Database is a free Website that provides information about the relationships between medical conditions Symptoms, and Medications. A chromosome is an organized structure of DNA and Protein that is found in cells. The X chromosome is one of the two sex-determining Chromosomes in many animal species including mammals (the other is the Y chromosome) The cell is the structural and functional unit of all known living Organisms It is the smallest unit of an organism that is classified as living and is often called The condition is also known as triplo-X, trisomy X, XXX syndrome, and 47,XXX aneuploidy. Triple X results during division of a parent's reproductive cells and occurs about once in every 1,000 births. Women with trisomy X do not exhibit any tell-tale symptoms and cannot be distinguished from normal XX females unless karyotyping is performed. A karyotype is the characteristic Chromosome complement of a Eukaryote Species.

Contents

Cause

Triple X syndrome is not inherited, but usually occurs as a quite random event during the formation of reproductive cells (ovum and sperm). A gamete (from Ancient Greek γαμέτης; translated gamete = wife gametes = husband is a cell that fuses with another gamete An ovum (plural ova) is a Haploid Female reproductive cell or Gamete. A spermatozoon or spermatozoan ( pl spermatozoa) from the Ancient Greek σπέρμα (seed and ζῷον (living being and more commonly known An error in cell division called nondisjunction can result in reproductive cells with additional chromosomes. Nondisjunction is the failure of chromosome pairs to separate properly during cell division For example, an oocyte or sperm cell may gain an extra copy of the X chromosome as a result of the nondisjunction. An oocyte, ovocyte, or rarely ocyte, is a female Gametocyte or Germ cell involved in reproduction. If one of these cells contributes to the genetic makeup of a child, the child will have an extra X chromosome in each of her cells. In some cases, trisomy X occurs during cell division in early embryonic development. An embryo (from Greek:, plural, lit "that which grows" from en- "in" + bryein "to swell be full" is a multicellular

Some females with triple X syndrome have an extra X chromosome in only some of their cells. These cases are called 46,XX/47,XXX mosaics. In Medicine ( Genetics) a mosaic or mosaicism denotes the presence of two populations of cells with different Genotypes in one

Symptoms

Due to inactivation and formation of a Barr body in all female cells, only one X chromosome is active at any time in a female cell. In those species (including humans in which sex is determined by the presence of the Y or X Chromosome rather than the diploidy of the X or Z a Barr body is The X chromosome is one of the two sex-determining Chromosomes in many animal species including mammals (the other is the Y chromosome) Thus, triple X syndrome most often causes no unusual physical features or medical problems. Females with the condition are usually taller than average, and their weight may be low in comparison to their height. They may have menstrual irregularities,and, although rarely exhibiting severe mental impairments, have an increased risk of learning disabilities, delayed speech, and language skills. In the United States and Canada, the term learning disability (LD refers to a group of disorders that affect a broad range of academic and functional skills including Speech delay refers to a delay in the development or use of the mechanisms that produce speech

A similar range of body types and characteristics are present in both triple X and Klinefelter's syndrome. Body type has several meanings A description of any kind of human body shape using general body descriptors Slim, fat, tall Petite, wide-shouldered Klinefelter's syndrome, 47XXY or XXY syndrome is a condition caused by a Chromosome Aneuploidy. These include a lanky/youthful appearance, non-affectedness, or varying degrees of androgyny. The additional X chromosome can come from either the maternal or paternal side. "Mom" "Mum" and "Mommy" redirect here The father is defined as the Male Parent of an offspring The Adjective "paternal" refers to father parallel to "maternal" for Although body types and characteristics are distinguishable in triple X, the condition is verified only by karyotype testing. A karyotype is the characteristic Chromosome complement of a Eukaryote Species.

Most women with triple X have normal sexual development and are able to conceive children. A few may experience an early onset of menstruation. See also "Mensuration" a term sometimes used to describe Measurement, particularly in the context of Forestry. Triple X women are rarely diagnosed, apart from pre-natal testing methods, such as amniocentesis. Obstetrics (from the Latin obstare, "to stand by" is the surgical speciality dealing with the care of a woman and her offspring during Pregnancy Amniocentesis (also referred to as amniotic fluid test or AFT) is a medical procedure used in Prenatal diagnosis of genetic abnormalities and fetal Most medical professionals do not regard the condition a disability. However, such status can be sought by parents for early intervention treatment if mild delays are present.

Incidence

Triple X syndrome occurs in around 1 in 1,000 girls. On average, five to ten girls with triple X syndrome are born in the United States each day. The United States of America —commonly referred to as the [1]

First case

The first published report of a woman with a 47,XXX karyotype was by Patricia A. Jacobs, et al. at Western General Hospital in Edinburgh, Scotland, in 1959. The Western General Hospital (often abbreviated to simply "The Western General" at Crewe Road Edinburgh, Scotland is part of NHS Lothian, a Edinburgh ( ˈɛdɪnb(ərə Dùn Èideann) is the Capital of Scotland and is its second largest city after Glasgow. It was found in a 35-year-old, 5 ft. 9 in. (176 cm) tall, 128 lb. (58. 2 kg) woman who had premature ovarian failure at age 19; her mother was age 41 and her father was 40 at the time of her conception. Premature Ovarian Failure (POF also known as primary ovarian insufficiency, is the loss of function of the Ovaries before age 40 [2]

See also

References

  1. ^ National Library of Medicine (2007). Klinefelter's syndrome, 47XXY or XXY syndrome is a condition caused by a Chromosome Aneuploidy. XYY syndrome is an Aneuploidy of the Sex chromosomes in which a Human Male receives an extra Y chromosome, producing a 47XYY Turner syndrome or Ullrich-Turner syndrome encompasses several conditions of which monosomy X is the most common XXXX syndrome (also called tetrasomy X, quadruple X, or 48 XXXX) is a rare chromosomal disorder caused by the presence of four X chromosomes XXXXX syndrome (also called pentasomy X or 49XXXXX) is the presence of three additional X chromosomes Diagnosis is done by Karyotyping. Genetics Home Reference: Triple X syndrome. Retrieved on 2007-03-22. Year 2007 ( MMVII) was a Common year starting on Monday of the Gregorian calendar in the 21st century. Events 238 - Gordian I and his son Gordian II are proclaimed Roman emperor.
  2. ^ Jacobs PA, Baikie AG, Brown WM, MacGregor TN, Maclean N, Harnden DG (September 26, 1959). Evidence for the existence of the human "super female". Lancet 274 (7100): 423-5. This article is about the journal For other uses of the term "lancet" see Lancet (disambiguation. doi:10.1016/S0140-6736(59)90415-5. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 14406377.  

External links

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