61 members
Each human cell stores its genetic material (DNA) in chromosomes. All normal human cells have 23 pairs of chromosomes with the exception of sperm or egg cells that have 23 single chromosomes. Al...
52 members
Chromosome 13q deletion is a rare genetic disorder in which a piece of genetic material from the long arm (q) of one of the two chromosome 13s is missing. The symptoms and severity of the disord...
4 members
A rare disease known as 14q21.3 deletion syndrome is caused by a lack of genetic information at this chromosome location. Genes are the blueprint for everything that the body needs to ...
214 members
15q26 deletion is a genetic condition in which a small piece of DNA (genetic material) is missing from one of the 46 chromosomes, specifically from the q (long arm) of chromosome 15. Depen...
25 members
Pieces of genetic information copied and inserted into the wrong place can lead to a rare disease. 16p13.11 microduplication syndrome is caused by the duplication of a region of chromosome 16, l...
3 members
17-Beta-Hydroxysteroid Dehydrogenase Deficiency is a rare sexual development disorder affecting testosterone synthesis.
1 members
11 members
18P Syndrome is a partial deletion of the small arm of the # 18 chromosome. Children with this disorder are generally very small in stature and will have some level of learning disabilities. There ...
11 members
Each human cell contains 23 pairs of chromosome, which are structures made up of DNA that carry genetic information. Each person receives one copy of each chromosome from each parent, ...
27 members
Loss of genetic information at key genomic locations can lead to disease. 22q11.2 deletion syndrome is caused by the deletion of a region of chromosome 22 at a designated position called q...
8 members
22q13 Deletion Syndrome is a rare genetic disorder caused by the deletion of the location q13.3 on chromosome 22.
16 members
Loss of genetic information at key genomic locations can lead to disease. 3p25 deletion syndrome is a condition resulting from the deletion of a small portion of DNA at the terminal re...
1 members
1 members
3q29 deletion syndrome is a rare genetic disorder caused by the loss of a small piece of DNA from the long arm of chromosome 3. The manifestations of the disease are different depending on the p...
3 members
48,XXYY syndrome is a rare genetic condition caused by a chromosome aneuploidy.
45 members
4q33 Deletion a rare disorder caused by a partial deletion of chromosome 4. It is terminal deletion on the long arm (q) of chromosome 4. Symptom manifestation depends on where and how much of ch...
1 members