Distal chromosome 22q11.2 deletion syndrome is a rare genetic condition where a small piece is missing from the long arm (q arm) of chromosome 22, but outside the classic DiGeorge/velocardiofacial ...
Chromosome 1q41-q42 deletion syndrome is a rare genetic condition. A small piece is missing (deleted) from the long arm (q arm) of chromosome 1, in a region called 1q41-q42. This missing piece ...
Recurrent microduplication means that a tiny piece of a chromosome is copied twice, in the same spot, in many unrelated people. In this condition, the extra copied piece is in the 1q21.1 region of ...
Chromosome 1q21.1 duplication syndrome (also called 1q21.1 microduplication) is a genetic condition in which a small extra piece of chromosome 1 is present in the long arm at position q21.1. This ...
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 normal, and the other has a small segment ...
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 chromosome 1 at position 21.1. Because ...
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 cells of the body. Every person usually ...
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 arm (called “p”) at band 36, is missing ...
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 1p36 region). This missing piece removes ...
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, in the region called 1p32 to 1p31. This ...
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 19, in a region called 19q13.11. This ...
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, while other cells have the normal two ...
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 17, between bands q23.1 and ...
Chromosome 17q21.31 duplication syndrome (also called 17q21.31 microduplication syndrome) is a rare genetic condition where a small extra piece of chromosome 17 is present in the long arm region ...
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 extra piece of DNA is present in almost ...
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 long arm of the chromosome at a place ...
Van Asperen syndrome is another name for a rare genetic condition called NF1 microdeletion syndrome or chromosome 17q11.2 deletion syndrome. In this condition, a small piece of chromosome 17 is ...
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 called RNF135 on chromosome 17 (region ...
Overgrowth-macrocephaly-facial dysmorphism syndrome is a very rare genetic condition where a baby or child grows taller and bigger than expected, has a larger-than-average head, and has a typical, ...
Neurofibromatosis 1 microdeletion syndrome is a rare genetic condition where a small piece of chromosome 17, including the NF1 gene and nearby genes, is missing. This missing piece is called a ...
