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Communities

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  • 12q Chromosome Deletion

    55 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...

  • 13q Deletion Syndrome

    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...

  • 14q21.3 Deletion

    3 members

    Community for people dealing with Chromosome 14q21.3 deletion

  • 15q 26.2 Deletion

    211 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...

  • 16p13.11 Duplication Syndrome

    23 members

    16p13.11 Duplication Syndrome is a rare disorder characterized by behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.

  • 17-Beta-Hydroxysteroid Dehydrogenase Deficiency

    3 members

    17-Beta-Hydroxysteroid Dehydrogenase Deficiency is a rare sexual development disorder affecting testosterone synthesis.

  • 17q12 deletion and duplication

    1 members

  • 18P Syndrome

    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 ...

  • 1q21.1 Deletion Syndrome

    10 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, ...

  • 22q11.2 Deletion Syndrome

    27 members

    22q11.2 Deletion Syndrome is a genetic disorder caused by the deletion of a small segment of the long arm of chromosome 22.

  • 22q13 Deletion Syndrome

    8 members

    22q13 Deletion Syndrome is a rare genetic disorder caused by the deletion of the location q13.3 on chromosome 22.

  • 3p25 Deletion Syndrome

    16 members

    3p25 Deletion Syndrome is a rare chromosomal disorder characterized by mental retardation, growth retardation, hypotonia, microcephaly, ptosis, and micrognathia.

  • 3q23 duplication - COPB2 Gene

    1 members

  • 3q29 deletion syndrome

    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...

  • 48,XXYY Syndrome

    3 members

    48,XXYY syndrome is a rare genetic condition caused by a chromosome aneuploidy.

  • 4q33 Deletion

    43 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...

  • 7p22.1 Microduplication Syndrome

    1 members