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Trisomy Reference – Symptoms, Diagnosis, Treatments
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Trisomy Reference – Symptoms, Diagnoses, Treatments
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Aneuploidy - From Wikipedia, the free encyclopedia
Aneuploidy Classification & external resources ICD-10 Q90-Q98 ICD-9 758 Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder. Aneuploidy is common in cancerous cells.
Contents
1 Commonly observed forms 1.1 Monosomy 1.1.1 Human monosomy 1.2 Disomy 1.3 Trisomy 1.3.1 Human trisomy 1.4 Tetrasomy and pentasomy 2 Sources 3 See also 4 External links
Commonly observed forms
Monosomy Monosomy is the presence of only one chromosome from a pair in a cell's nucleus. Partial monosomy occurs when only a portion of the chromosome has one copy, while the rest has two copies.
Human monosomy Human genetic disorders arising from monosomy are:
X0-Only one X chromosome instead of the usual two (XX) seen in a normal female, also known as Turner syndrome Cri du chat syndrome -- (French for "cry of the cat" after the distinctive noise by affected persons' malformed larynx) a partial monosomy caused by a deletion of the end of the short p (from the word petit, French for small) arm of chromosome 5 1p36 Deletion Syndrome -- a partial monosomy caused by a deletion at the end of the short p arm of chromosome 1
Disomy A disomy is the presence of a pair of chromosomes. For diploid organisms, such as humans, it is the normal condition. For organisms that are normally triploid or above, disomy is an aneuploidy. It can also refer to cells that are normally haploid, such as gametes.
In uniparental disomy, the disomy refers to two copies of the chromosome from one of the parents (with no contribution from the other parent).
Trisomy A trisomy is the presence of three, instead of the normal two, chromosomes of a particular numbered type in an organism. Thus the presence of an extra chromosome 21 is called trisomy 21.
A partial trisomy occurs when part of an extra chromosome is attached to one of the other chromosomes, or if one of the chromosomes has two copies of part of its chromosome. A mosaic trisomy is a condition where extra chromosomal material exists in only some of the organism's cells.
Human trisomy A trisomy can occur with any chromosome. Most trisomies, like most other abnormalities in chromosome number, result in distinctive and serious birth defects. Mostly, the causes are autosomal and sex chromosomal nondisjunction. Most trisomies result in spontaneous abortion; the most common types that survive to birth in humans are:
Autosomal nondisjunction
Trisomy 21 (Down syndrome) Trisomy 18 (Edwards syndrome) Trisomy 13 (Patau syndrome) Trisomy 9 Trisomy 8 (Warkany syndrome 2) Trisomy 16 is the most common trisomy in humans, occurring in more than 1% of pregnancies. This condition, however, usually results in spontaneous miscarriage in the first trimester. The most common trisomy in viable births is Trisomy 21.
Sex-chromosomal nondisjunction
Trisomy involving sex chromosomes in humans includes:
XXX (Triple X syndrome) XXY (Klinefelter's syndrome) XYY (XYY syndrome)
Tetrasomy and pentasomy A tetrasomy and a pentasomy are the presence of a respectively four or five copies of a chromosome. Although very rare, reported examples of tetrasomy and pentasomy in humans include the karyotypes XXXX (XXXX syndrome),XXYY, XXXY, XYYY, XXXXX, XXXXY, XXXYY, XYYYY and XXYYY.
Sources This article incorporates public domain text from The U.S. National Library of Medicine. Sex chromosome tetrasomy and pentasomy. PMID 7567329
See also Ploidy Polyploidy Chromosome abnormalities
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