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Chromosomal deletion syndrome information


Chromosomal deletion syndromes result from deletion of parts of chromosomes. Depending on the location, size, and whom the deletion is inherited from, there are a few known different variations of chromosome deletions. Chromosomal deletion syndromes typically involve larger deletions that are visible using karyotyping techniques. Smaller deletions result in Microdeletion syndrome, which are detected using fluorescence in situ hybridization (FISH)

Examples of chromosomal deletion syndromes include 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf–Hirschhorn syndrome), Prader–Willi syndrome, and Angelman syndrome.[1]

  1. ^ "Chromosomal deletion syndromes". Archived from the original on 13 September 2013. Retrieved 16 September 2013.

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Chromosomal deletion syndrome

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Chromosomal deletion syndromes result from deletion of parts of chromosomes. Depending on the location, size, and whom the deletion is inherited from...

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DiGeorge syndrome

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DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms...

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Microdeletion syndrome

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A microdeletion syndrome is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small...

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Jacobsen syndrome

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Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1. It is a congenital disorder...

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Chromosome 5q deletion syndrome

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Chromosome 5q deletion syndrome is an acquired, hematological disorder characterized by loss of part of the long arm (q arm, band 5q33.1) of human chromosome...

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1p36 deletion syndrome

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depending on the exact location of the chromosomal deletion. The condition is caused by a genetic deletion (loss of a segment of DNA) on the outermost...

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Cri du chat syndrome

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Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. Its name is a French term ("cat-cry" or "call of...

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22q13 deletion syndrome

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22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long...

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Angelman syndrome

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common genetic defect leading to Angelman syndrome is a 5- to 7-Mb (megabase) maternal deletion in chromosomal region 15q11.2-q13. Specifically, the paternal...

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Turner syndrome

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partially missing an X chromosome (sex chromosome monosomy). Most people have two sex chromosomes (XX or XY). The chromosomal abnormality is often present...

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Chromosome abnormality

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A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular...

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3p deletion syndrome

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deletion syndrome is a rare genetic disorder caused by the deletion of small fragments of chromosome 3. Reports symptoms in patients with 3p deletion...

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13q deletion syndrome

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13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size...

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Chromosome 15q partial deletion

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Chromosome 15q partial deletion is a rare human genetic disorder, caused by a chromosomal aberration in which the long ("q") arm of one copy of chromosome...

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17q12 microdeletion syndrome

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17q12 microdeletion syndrome, also known as 17q12 deletion syndrome, is a rare chromosomal anomaly caused by the deletion of a small amount of material...

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Chromosome 22

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signs and symptoms of 22q11.2 deletion syndrome. 22q11.2 distal deletion syndrome 22q13 deletion syndrome Other chromosomal conditions: Other changes in...

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List of syndromes

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medical syndromes. 13q deletion syndrome 17q21.31 microdeletion syndrome 1p36 deletion syndrome 1q21.1 deletion syndrome 1q21.1 duplication syndrome 22q11...

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Down syndrome

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Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21...

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2q37 deletion syndrome

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2q37 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 2 in which one or more of 3 sub-bands, 2q37.1, 2q37.2, and...

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Nondisjunction

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occur in any form of cell division that involves ordered distribution of chromosomal material. Higher animals have three distinct forms of such cell divisions:...

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Trisomy 18

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18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. Many parts of the body...

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XYY syndrome

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XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome. There are usually few symptoms...

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