染色体異常

関: chromosomal aberration、chromosomal abnormality、chromosomal anomaly、chromosome aberration、chromosome abnormality、chromosome disorder、cytogenetic abnormality

WordNet

bring disorder to (同)disarray
a physical condition in which there is a disturbance of normal functioning; "the doctor prescribed some medicine for the disorder"; "everyone gets stomach upsets from time to time" (同)upset
a disturbance of the peace or of public order
of or relating to a chromosome; "chromosomal defect"
not arranged in order (同)unordered

PrepTutorEJDIC

〈U〉『無秩序』,混乱,乱雑(confusion) / 《しばしば複数形で》(社会的・政治的な)粉争,騒動 / 〈C〉(肉体的・精神的な)不調,異常,障害 / …‘の'秩序を乱す / 〈心身〉‘に'異常を起こさせる

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/02/15 13:52:03」(JST)

wiki en

[Wiki en表示]

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 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 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.

References

NHGRI. 2006. Chromosome Abnormalities

External links

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

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 自閉症スペクトラム障害：診断 autism spectrum disorder diagnosis
2. 非定型生殖器（性分化疾患）を有する乳児の評価 evaluation of the infant with atypical genitalia disorder of sex development
3. 外性器異常（性分化疾患）のある乳児のマネージメント management of the infant with atypical genitalia disorder of sex development
4. 知的障害（精神遅滞）のある成人のプライマリケア primary care of the adult with intellectual and developmental disabilities
5. 染色体の転座、欠失、および逆位 chromosomal translocations deletions and inversions

English Journal

Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong.

Siu WK1,2, Lam CW3, Mak CM2, Lau ET4, Tang MH4, Tang WF4, Poon-Mak RS5, Lee CC6, Hung SF6, Leung PW7, Kwong KL8, Yau EK9, Ng GS9, Fong NC9, Chan KY9.
Clinical and translational medicine.Clin Transl Med.2016 Dec;5(1):18. doi: 10.1186/s40169-016-0098-1. Epub 2016 May 16.
BACKGROUND: Chromosomal microarray offers superior sensitivity for identification of submicroscopic copy number variants (CNV) and it is advocated to be the first tier genetic testing for patients with autism spectrum disorder (ASD). In this regard, diagnostic yield of array comparative genomic hyb
PMID 27271878

HGSNAT has a TATA-less promoter with multiple starts of transcription.

Richtrova E1, Mrazova LS2, Musalkova D3, Luksan O4, Stolnaya L5, Minks J6, Lukas J7, Dvorakova L8, Jirsa M9, Hrebicek M10.
Gene.Gene.2016 Oct 30;592(1):36-42. doi: 10.1016/j.gene.2016.07.051. Epub 2016 Jul 22.
Acetyl-CoA:α-glucosaminide N-acetyltransferase (N-acetyltransferase) is a lysosomal membrane enzyme that catalyzes a key step in the lysosomal degradation of heparan sulfate. Its deficiency causes Sanfilippo syndrome type IIIC (Mucopolysaccharidosis type IIIC, MPS IIIC). Here we characterize the pr
PMID 27452122

Normal newborn with prenatal suspicion of X chromosome monosomy due to confined placental mosaicism.

Serapinas D1, Bartkeviciene D2, Valantinaviciene E3, Machtejeviene E4.
Archivos argentinos de pediatría.Arch Argent Pediatr.2016 Oct 1;114(5):e362-5. doi: 10.5546/aap.2016.eng.e362. Epub 2016 Apr 11.
in

English, SpanishLa reciente introducción de las pruebas prenatales no invasivas (NIPT, por sus siglas en inglés) basadas en el ADN libre ofrece un método más preciso que los métodos tradicionales de detección en el suero materno para identificar aneuploidías fetales. La eficacia de las

PMID 27606664

Japanese Journal

Systematic Cellular Disease Models Reveal Synergistic Interaction of Trisomy 21 and GATA1 Mutations in Hematopoietic Abnormalities

Cell reports 15(6), 1228-1241, 2016-05
NAID 120005774745

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

PLOS Genetics 12(1), 2016-01-07
NAID 120005947040

Multiple odontogenic cysts in a patient with Neurofibromatosis–Noonan syndrome

Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology 28(1), 51-54, 2016-01
NAID 120005890207

「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

「disorder」

　　[★]

障害：個人的苦痛や機能の障害があるので「疾病」とは言えるものの、その背景にある臓器障害がもう一つはっきりしない場合に用いられる。(PSY.9)

n.

an untidy state; a lack of order or organization (⇔order)
violent behaviour of large groups of people
an illness that cause a part of the body to stop functioning correctly

注意

disease <> illness <> disorder

vt.

乱す、乱雑にする。(人)の(心身の)調子を狂わせる。

vi.

「chromosomal」

　　[★]

染色体の、染色体性の

関: chromosomally、chromosome

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

匿名

検索

案内

案内

chromosomal disorder