Microdeletion syndrome information

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...

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

3q29 microdeletion syndrome is a rare genetic disorder resulting from the deletion of a segment of chromosome 3. This syndrome was first described in...

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

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...

deletion syndromes typically involve larger deletions that are visible using karyotyping techniques. Smaller deletions result in Microdeletion syndrome, which...

WBSCR21 WBSCR22 WBSCR23 WBSCR24 WBSCR27 WBSCR28 Williams syndrome is a microdeletion syndrome caused by the spontaneous deletion of genetic material from...

Syndromes caused by CNVs (e.g.: microdeletion 22q11.2 syndrome) Teratogens (e.g.: valproate aembryopathy) Syndromes recognized by genome-wide testing...

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...

Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a person's cells have only one X chromosome or are partially missing...

profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome". American Journal of Human Genetics. 95 (5): 579–583. doi:10.1016/j...

imbalance 2p15-16.1 microdeletion syndrome Achard syndrome Ackerman syndrome Acrocallosal syndrome Acropectoral syndrome Adams–Oliver syndrome Aglossia adactylia...

May 2007). "2q37 Microdeletion Syndrome: In GeneReviews – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". 2q37 Microdeletion Syndrome. University of Washington...

disorders involving deletions at 22q11.2 (DiGeorge syndrome) and 17q12 (17q12 microdeletion syndrome), duplications at 16p11.2 (most frequently found)...

to genes located on chromosome 2: 2p15-16.1 microdeletion syndrome Autism Alport syndrome Alström syndrome Amyotrophic lateral sclerosis Brachydactyly...