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14 Search Results for: tetrasomy


Rare Disease Information

NORD Rare Disease Database

Cat Eye Syndrome

Cat eye syndrome (CES) is a rare chromosomal disorder that may be evident at birth. Individuals with a normal chromosomal make-up have two 22nd chromosomes, both of which...

Chromosome 18, Tetrasomy 18p

Chromosome 18, Tetrasomy 18p is a very rare chromosomal disorder in which the short arm of the 18th chromosome (18p) appears four times (tetrasomy) rather than twice in...

Chromosome 9, Tetrasomy 9p

Chromosome 9, Tetrasomy 9p is a very rare chromosomal disorder in which the short arm of the ninth chromosome (9p) appears four times (tetrasomy) rather than twice in all...

Pallister Killian Mosaic Syndrome

Summary Pallister-Killian mosaic syndrome is a rare chromosomal disorder caused by the presence of at least four copies of the short arm of chromosome 12 instead of the...

Dup15q Syndrome

Summary Chromosome 15q11.2-13.1 duplication syndrome (dup15q syndrome) is a clinically identifiable syndrome which results from duplications of the portion of...

NIH GARD Information

Cat eye syndrome

Cat eye syndrome is a chromosome abnormality that affects many different parts of the body. The signs and symptoms of the condition vary widely but may include...

Chromosome 18p tetrasomy

Chromosome 18p tetrasomy is a chromosomal disorder that affects many parts of the body. It occurs when the short arm of chromosome 18 (18p) appears four times...

Tetrasomy 9p

Isodicentric chromosome 15 syndrome

Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an...

Tetrasomy X

Tetrasomy X is a chromosome disorder that only affects females and is caused by having four copies of the X chromosome instead of two. Females with tetrasomy X have a...

Pallister-Killian mosaic syndrome

Pallister-Killian mosaic syndrome is a multi-system disorder that is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual...

Tetrasomy 21


Organizations Results

Cat Eye Syndrome International

Cat Eye Syndrome International (CESI) is a non-profit organization that supports individuals and families affected by Cat Eye Syndrome (CES), also known as...

Tetrasomy/Pentasomy X Support Group

The Tetrasomy/Pentasomy X Support Group provides information on rare chromosomal disorders in which females are born with extra X chromosomes. Presenting signs and...