Chromosome 17q21.31 duplication syndrome (also called 17q21.31 microduplication syndrome) is a rare genetic condition where a small extra piece of chromosome ...

Chromosome 17q12 duplication syndrome is a rare genetic condition where a small piece of chromosome 17, at a place called “q12,” is copied one extra time. This ...

Chromosome 17q12 deletion syndrome is a rare genetic condition where a tiny piece of chromosome 17 is missing from each cell. This missing piece sits on the ...

Van Asperen syndrome is another name for a rare genetic condition called NF1 microdeletion syndrome or chromosome 17q11.2 deletion syndrome. In this condition, ...

RNF135-related overgrowth syndrome is a very rare genetic condition. It happens when there is a change (variant) or a small missing piece (deletion) in a gene ...

Overgrowth-macrocephaly-facial dysmorphism syndrome is a very rare genetic condition where a baby or child grows taller and bigger than expected, has a ...

Neurofibromatosis 1 microdeletion syndrome is a rare genetic condition where a small piece of chromosome 17, including the NF1 gene and nearby genes, is ...

Macrocephaly, macrosomia, and facial dysmorphism syndrome (often shortened to MMFD) is a very rare genetic overgrowth condition. Children with this syndrome ...

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 ...

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 ...

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 ...

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 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 ...

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. ...

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 ...

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 ...

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 ...

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, ...

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 ...

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 ...