Diseases

Chromosome 11q partial deletion

A rare chromosomal disorder where a portion of chromosome 11 is missing and is characterized by trigonencephaly, heart defects and a large, carp-shaped mouth.

Chromosome 12 ring

A rare chromosomal disorder where genetic material from one or both ends of chromosome 12 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.

Chromosome 12- trisomy 12q

Chromosome 12, trisomy 12q is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 12, trisomy 12q, or a subtype of Chromosome 12, trisomy 12q, affects less than 200,000 people in the US population.

Chromosome 12p deletion

Chromosome 12p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities.

Chromosome 13 ring

A rare chromosomal disorder where genetic material from one or both ends of chromosome 13 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.

Chromosome 13- partial monosomy 13q

Chromosome 13, partial monosomy 13q is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 13, partial monosomy 13q, or a subtype of Chromosome 13, partial monosomy 13q, affects less than 200,000 people in the US population

Chromosome 13p duplication

A rare chromosomal disorder where duplication of a portion of chromosome 13 causes various abnormalities such as mental retardation, short stature, facial dysmorphism, delayed puberty and heart defects.

Chromosome 13q deletion

A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.

Chromosome 13q trisomy

A rare chromosomal disorder where the long arm (q) of chromosome 13 is duplicated resulting in various physical, neurological and developmental abnormalities.

Chromosome 13q-mosaicism

A very rare chromosomal disorder where a copy of the long arm of chromosome 13 in some of the body's cells. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.

Chromosome 14 deletion

A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as congenital heart defect, excessive skin on neck and mouth defects.

Chromosome 14 trisomy

A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities.

Chromosome 14- trisomy mosaic

Chromosome 14, Trisomy Mosaic is a rare chromosomal disorder in which chromosome 14 appears three times (trisomy) rather than twice in some cells of the body. The term "mosaic" indicates that some cells contain the extra chromosome 14, whereas others have the normal chromosomal pair. The disorder may be characterized by growth delays before birth (intrauterine growth retardation); failure to grow and gain weight at the expected rate (failure to thrive) during infancy; delays in the acquisition of skills requiring the coordination of mental and physical abilities (psychomotor delays); and mental retardation. Affected infants also have distinctive abnormalities of the head and facial (craniofacial) region, such as a prominent forehead; deeply set, widely spaced eyes; a broad nasal bridge; and low-set, malformed ears. Additional craniofacial abnormalities may include an unusually small lower jaw (micrognathia); a large mouth and thick lips; and incomplete closure or abnormally high arching of the roof of the mouth (palate). Many affected infants also have structural malformations of the heart (e.g., tetralogy of Fallot). In some cases, additional physical abnormalities may also be present.

Chromosome 14q- partial deletions

A rare chromosomal disorder involving deletion of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.

Chromosome 14q- proximal duplication

A rare chromosomal disorder where duplication of a portion of chromosome 14 causes various abnormalities such as facial dysmorphism, limb abnormalities, mental retardation and short stature.

Chromosome 14q- terminal deletion

A very rare syndrome caused by a deletion of a part of the material on chromosome 14 and resulting in various abnormalities such as mental retardation and short fingers.

Chromosome 14q- terminal duplication

A very rare syndrome caused by a duplication of a part of the material on chromosome 14 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation.

Chromosome 15 ring

A rare chromosomal disorder where genetic material from one or both ends of chromosome 15 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.

Chromosome 15- distal trisomy 15q

A very rare chromosomal disorder where the end part of the long arm (q) of chromosome 15 occurs three times in each cell instead of two. Symptoms and severity depend on the size of the chromosomal portion that is duplicated.

Chromosome 15- partial tetrasomy

Isodicentric 15, also called idic(15), partial tetrasomy 15q, or inverted duplication 15 (inv dup 15) is a rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities.

Chromosome 15- trisomy mosaicism

A rare chromosomal disorder where duplication of a portion of chromosome 15 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction and hand abnormalities.

Chromosome 15q- partial deletion

A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the deleted genetic material.

Chromosome 15q- trisomy

Chromosome 15q trisomy is an extremely rare genetic disorder, caused by a chromosomal aberration in which there is an excess copy of the long ("q") arm of human chromosome 15. The disorder is also known as Distal Duplication 15q and Partial Duplication 15q Syndrome.

Chromosome 16- trisomy 16q

A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material. Severe cases often result in spontaneous abortion or infant death.