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18 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...

Also known as: CES, chromosome 22, inverted duplication (22pter-22q11), chromosome 22, partial tetrasomy (22pter-22q11), chromosome 22, partial trisomy (22pter-22q11), Schmid-Fraccaro syndrome

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...

Also known as: Tetrasomy, Short Arm of Chromosome 18

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...

Also known as: Chromosome 9, Tetrasomy 9p Mosaicism, Mosaic Tetrasomy 9p, Tetrasomy 9p, Tetrasomy, Short Arm of Chromosome 9

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...

Also known as: chromosome 12, Isochromosome 12p syndrome, Killian syndrome, Killian Teschler-Nicola syndrome, Pallister mosaic syndrome, Teschler-Nicola Killian syndrome, PKS, isochromosome 12p syndrome, tetrasomy 12p, mosaic

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...

Also known as: 15q11.2-q13.1 duplication syndrome, dup15q syndrome, inverted duplication 15 (inv dup15), partial trisomy 15, isodicentric chromosome 15 syndrome [Idic(15)], interstitial duplication chromosome 15 [Int dup(15)], supernumerary marker chromosome 15 (SMC15), partial tetrasomy 15q, interstitial triplication 15 [Int trp(15)]

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...