Macrocephaly, macrosomia, and facial dysmorphism syndrome (often shortened to MMFD) is a very rare genetic overgrowth condition. Children with this syndrome usually have a very large head ...
Chromosome 17q11.2 deletion syndrome is a rare genetic condition where a small piece of chromosome 17 is missing in the area called “q11.2.” This missing piece includes the NF1 gene and several ...
Chromosome 17p13.3 centromeric duplication syndrome is a very rare genetic condition. In this condition, a tiny extra piece of DNA is present on the short arm (p) of chromosome 17, in the band called ...
Chromosome 17p13.3 duplication syndrome (also called 17p13.3 microduplication syndrome) is a rare genetic condition. It happens when a person has an extra tiny piece of DNA on the short arm (p arm) ...
Chromosome 16p13.3 duplication syndrome is a rare genetic condition. It happens when a small extra piece of DNA is present on the short arm (p arm) of chromosome 16, in a region called 16p13.3. ...
Chromosome 16p12.2-p11.2 deletion syndrome is a very rare genetic condition. A small piece is missing (deleted) from the short arm of chromosome 16, between bands 16p12.2 and 16p11.2. This missing ...
Proximal 16p11.2 microduplication syndrome is a rare genetic condition. A tiny part of chromosome 16, in a region called 16p11.2, is copied one extra time. This extra copy is present in (almost) all ...
Proximal 16p11.2 microduplication syndrome is a genetic condition where a very small piece of chromosome 16, at a place called 16p11.2, is copied one extra time. This extra copy means there is “too ...
Chromosome 16p11.2 duplication syndrome is a genetic condition where a small piece of chromosome 16 is copied one extra time. This extra copy sits on the short arm (p arm) of chromosome 16 at a place ...
Chromosome 16 trisomy means there are three copies of chromosome 16 instead of the usual two. This extra chromosome is present in the baby’s cells and changes how the baby grows and develops. ...
Drayer syndrome is a rare genetic (chromosomal) condition where a person is missing a small piece from the end (qter) of the long arm (q) of chromosome 15, usually around 15q26. Because some ...
Chromosome 15q26-qter deletion syndrome is a very rare genetic condition. In this condition, a small piece is missing from the long arm (q-arm) of chromosome 15, near the end (the “terminal” or ...
Chromosome 15q25 deletion syndrome is a rare genetic condition. In this condition, a small piece of genetic material is missing (deleted) from the long arm (q arm) of chromosome 15, in a region ...
Chromosome 15q24 deletion syndrome is a rare genetic condition where a small part of the long arm (q arm) of chromosome 15, in the 15q24 region, is missing. This missing piece is called a ...
Chromosome 15q13.3 microdeletion syndrome happens when a tiny piece is missing (deleted) from the long arm (q) of chromosome 15, in a place called q13.3. This small missing piece contains several ...
Chromosome 15q11.2 deletion syndrome happens when a very tiny piece is missing from the long arm (q arm) of chromosome 15, in a place called 15q11.2. This missing piece is called a “microdeletion” ...
Chromosome 13q14 deletion syndrome is a rare genetic condition that happens when a small piece of the long arm (q arm) of chromosome 13 is missing in the 13q14 region. This region includes the RB1 ...
Chromosome 10q23 deletion syndrome is a rare genetic condition that happens when a small piece is missing (deleted) from the long arm (q arm) of chromosome 10, around the band called 10q22.3–10q23.3. ...
Chromosome 1 is the largest human chromosome. It has a short arm called “p” and a long arm called “q.” The region between bands 1q12 and 1q21 is a stretch on the long arm that contains many important ...
X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome is a very rare genetic brain disorder. Doctors now call this condition Christianson ...
