chromosomal anomaly

• 染色体異常

関

chromosomal aberration、chromosomal abnormality、chromosomal disorder、chromosome aberration、chromosome abnormality、cytogenetic abnormality

WordNet

1. deviation from the normal or common order or form or rule (同)anomalousness
2. a person who is unusual (同)unusual person
3. (astronomy) position of a planet as defined by its angular distance from its perihelion (as observed from the sun)
4. of or relating to a chromosome; "chromosomal defect"

PrepTutorEJDIC

1. 〈U〉〈C〉変則,例外;異常 / 〈C〉変則的な事態,異例な人(物)

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/05/21 13:53:51」(JST)

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The three major single chromosome mutations; deletion (1), duplication (2) and inversion (3).

The two major two chromosome mutations; insertion (1) and Translocation (2).

A chromosome anomaly, abnormality or aberration reflects on a typical number of chromosomes or a structural abnormality in one or more chromosomes. A karyotype refers to a full set of chromosomes from an individual which can be compared to a "normal" karyotype for the species via genetic testing. A chromosome anomaly may be detected or confirmed in this manner. Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. There are many types of chromosome anomalies. They can be organized into two basic groups, numerical and structural anomalies.

Numerical disorders

This is called aneuploidy (an abnormal number of chromosomes), and occurs when an individual is missing either a chromosome from a pair (monosomy) or has more than two chromosomes of a pair (trisomy, tetrasomy, etc.).

In humans an example of a condition caused by a numerical anomaly is Down Syndrome, also known as Trisomy 21 (an individual with Down Syndrome has three copies of chromosome 21, rather than two). Trisomy has been determined to be a function of maternal age.

An example of monosomy is Turner Syndrome, where the individual is born with only one sex chromosome, an X.

Structural abnormalities

When the chromosome's structure is altered, this can take several forms:

• Deletions: A portion of the chromosome is missing or deleted. Known disorders in humans include Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome 4; and Jacobsen syndrome, also called the terminal 11q deletion disorder.
• Duplications: A portion of the chromosome is duplicated, resulting in extra genetic material. Known human disorders include Charcot-Marie-Tooth disease type 1A which may be caused by duplication of the gene encoding peripheral myelin protein 22 (PMP22) on chromosome 17.
• Translocations: A portion of one chromosome is transferred to another chromosome. There are two main types of translocations:
  • Reciprocal translocation: Segments from two different chromosomes have been exchanged.
  • Robertsonian translocation: An entire chromosome has attached to another at the centromere - in humans these only occur with chromosomes 13, 14, 15, 21 and 22.
• Inversions: A portion of the chromosome has broken off, turned upside down and reattached, therefore the genetic material is inverted.
• Insertions: A portion of one chromosome has been deleted from its normal place and inserted into another chromosome.
• Rings: A portion of a chromosome has broken off and formed a circle or ring. This can happen with or without loss of genetic material.
• Isochromosome: Formed by the mirror image copy of a chromosome segment including the centromere.

Chromosome instability syndromes are a group of disorders characterized by chromosomal instability and breakage. They often lead to an increased tendency to develop certain types of malignancies.

Inheritance

Most chromosome abnormalities occur as an accident in the egg or sperm, and therefore the anomaly is present in every cell of the body. Some anomalies, however, can happen after conception, resulting in Mosaicism (where some cells have the anomaly and some do not). Chromosome anomalies can be inherited from a parent or be "de novo". This is why chromosome studies are often performed on parents when a child is found to have an anomaly. If the parents do not possess the abnormality it was not initially inherited; however it may be transmitted to subsequent generations.

See also

Main article: List of genetic disorders

• Gene therapy

References

• NHGRI. 2006. Chromosome Abnormalities

External links

• Chromosome disorders at the US National Library of Medicine Medical Subject Headings (MeSH)

UpToDate Contents

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• 1. 染色体の転座、欠失、および逆位 chromosomal translocations deletions and inversions
• 2. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
• 3. 遺伝学およびゲノミクスのためのツール：細胞遺伝学および分子遺伝学 tools for genetics and genomics cytogenetics and molecular genetics
• 4. 胎児死および死産：発生率、病因、および予防 fetal demise and stillbirth incidence etiology and prevention
• 5. 急性骨髄性白血病における細胞遺伝学 cytogenetics in acute myeloid leukemia

English Journal

• Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: Clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25.

• Tonoki H, Harada N, Shimokawa O, Yosozumi A, Monzaki K, Satoh K, Kosaki R, Sato A, Matsumoto N, Iizuka S.SourceSection of Clinical Genetics, Department of Pediatrics, Tenshi Hospital, Sapporo, Japan; Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan. hidefumi.tonoki@tenshi.or.jp.
• American journal of medical genetics. Part A.Am J Med Genet A.2011 Oct 18. doi: 10.1002/ajmg.a.33858. [Epub ahead of print]
• Clinical phenotypes of and genetic aberrations in three unrelated Japanese patients with Axenfeld-Rieger anomalies and various accompanying malformations of systemic organs are described. GTG-banded chromosome analysis showed terminal deletions of the short arm of chromosome 6 in two patients and an
• PMID 22009788

• Arthrogryposis multiplexa congenita: an epidemiologic study of nearly 9 million births in 24 EUROCAT registers.

• Hoff JM, Loane M, Gilhus NE, Rasmussen S, Daltveit AK.SourceDepartment of Neurology, Haukeland University Hospital, Bergen, Norway; Department of Clinical Medicine, University of Bergen, Bergen, Norway.
• European journal of obstetrics, gynecology, and reproductive biology.Eur J Obstet Gynecol Reprod Biol.2011 Oct 15. [Epub ahead of print]
• OBJECTIVE: To examine the occurrence of arthrogryposis multiplex congenita (AMC) in Europe and to identify possible risk factors.STUDY DESIGN: Retrospective population-based epidemiological study using EUROCAT congenital anomaly registries. The study population included all cases of AMC (based on WH
• PMID 22005589

Japanese Journal

• 1)着床前診断(クリニカルカンファレンス4 不育症,生涯研修プログラム,<特集>第62回日本産科婦人科学会生涯研修プログラム,研修コーナー)

• 末岡 浩
• 日本産科婦人科學會雜誌 62(9), "N-145"-"N-149", 2010-09-01
• NAID 110007731033

• 遺伝子診療を理解するための遺伝医学の基礎 発生遺伝学と先天異常 (遺伝子診療学(第2版)--遺伝子診断の進歩とゲノム治療の展望) -- (遺伝子診断)

• 小崎 里華
• 日本臨床 68(-) (984), 33-37, 2010-08
• NAID 40017241336

Related Links

• Chromosome abnormality - Wikipedia, the free encyclopedia

A chromosome anomaly, abnormality or aberration reflects an atypical number of chromosomes or a structural abnormality in one or more chromosomes. A Karyotype refers to a full set of chromosomes from an individual which can be ...

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リンク元	「chromosome aberration」「chromosomal aberration」「chromosome abnormality」「chromosomal abnormality」「cytogenetic abnormality」
関連記事	「anomaly」「chromosomal」

「chromosome aberration」

　　[★]

• 染色体異常

関

abnormal karyotype、chromosomal aberration、chromosomal abnormality、chromosomal anomaly、chromosomal disorder、chromosome abnormality、cytogenetic aberration、cytogenetic abnormality

「chromosomal aberration」

　　[★]

• 染色体異常

関

abnormal karyotype、chromosomal abnormality、chromosomal anomaly、chromosomal disorder、chromosome aberration、chromosome abnormality、cytogenetic aberration、cytogenetic abnormality

「chromosome abnormality」

　　[★]

• 染色体異常

関

abnormal karyotype、chromosomal aberration、chromosomal abnormality、chromosomal anomaly、chromosomal disorder、chromosome aberration、cytogenetic aberration、cytogenetic abnormality

「chromosomal abnormality」

　　[★]

• 染色体異常

関

abnormal karyotype、chromosomal aberration、chromosomal anomaly、chromosomal disorder、chromosome aberration、chromosome abnormality、cytogenetic aberration、cytogenetic abnormality

「cytogenetic abnormality」

　　[★]

• 染色体異常

関

abnormal karyotype、chromosomal aberration、chromosomal abnormality、chromosomal anomaly、chromosomal disorder、chromosome aberration、chromosome abnormality、cytogenetic aberration

「anomaly」

　　[★]

• n.

• 異常、変則。異形。

関

aberrant、aberrantly、aberration、abnormal、abnormality、abnormally、anomalous、anomalously、defect、deviant、exceeding、exception、exceptional、extraordinarily、extraordinary、unusual、unusually

　 　 　 　

「chromosomal」

　　[★]

• 染色体の、染色体性の

関

chromosomally、chromosome