1q21.1 recurrent microdeletion is a tiny missing piece of DNA on chromosome 1, at a place called “1q21.1.” In this condition, one copy of chromosome 1 is ...

Chromosome 1q21.1 deletion syndrome (also called 1q21.1 microdeletion) happens when a small piece of genetic material is missing from the long arm (q arm) of ...

Partial deletion of the long arm of chromosome 1 means that a small or large piece is missing from the “q arm” (the long arm) of chromosome 1 in some or all ...

1p36 microdeletion syndrome (also called 1p36 deletion syndrome) is a genetic condition that starts before birth. A small piece of chromosome 1, from the short ...

Chromosome 1p36 deletion syndrome is a genetic condition that happens when a small piece is missing from the short arm (p arm) at the end of chromosome 1 (the ...

Chromosome 1p32-p31 deletion syndrome is a rare genetic condition. It happens when a small piece is missing from the short arm (the “p arm”) of chromosome 1, ...

Chromosome 19q13.11 deletion syndrome is a rare genetic condition. It happens when a small piece is missing (deleted) from the long arm (q arm) of chromosome ...

Chromosome 18 mosaic monosomy is a very rare genetic condition. It happens when some of the body’s cells are missing part or all of one copy of chromosome 18, ...

Chromosome 17q23.1-q23.2 deletion syndrome is a very rare genetic condition. In this syndrome, a tiny piece of DNA is missing from the long arm (q arm) of ...

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 ...