Alfi Syndrome
Alfi syndrome is a rare genetic condition that happens when a person is missing a piece of chromosome 9 from the short arm (called “9p”). Because genes are missing, the body and brain may not develop ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Chromosome 9p Deletion Syndrome
Chromosome 9p deletion syndrome happens when a small piece of the short arm (“p arm”) of chromosome 9 is missing. This missing piece is called a “deletion.” Because genes are lost, the body and brain ...
Chromosome 8q21.11 Deletion Syndrome
Chromosome 8q21.11 deletion syndrome is a very rare genetic condition. A small piece is missing (deleted) from the long arm (q arm) of chromosome 8, in a region called 8q21.11. This missing piece ...
Chromosome 8q12.1-q21.2 Deletion Syndrome
Chromosome 8q12.1-q21.2 deletion syndrome is a very rare genetic condition. In this condition, a small piece is missing (deleted) from the long arm (q arm) of chromosome 8, between the bands called ...
Chromosome 8-Derived Supernumerary Ring/Marker
Chromosome 8-derived supernumerary ring/marker is a very rare chromosome problem where a person has a tiny extra chromosome made from part of chromosome 8. This extra piece can be shaped like a ring ...
Chromosome 6q24–q25 Deletion Syndrome
Chromosome 6q24–q25 deletion syndrome is a rare genetic condition where a small piece is missing from the long arm (q arm) of chromosome 6 between positions 24 and 25. Because genes in this area help ...
6p Subtelomeric Deletion Syndrome
6p subtelomeric deletion syndrome (also called chromosome 6pter-p24 deletion syndrome, distal deletion 6p, 6p25 microdeletion syndrome or distal monosomy 6p) is a rare genetic condition where a small ...
Chromosome 6pter-p24 Deletion Syndrome
Chromosome 6pter-p24 deletion syndrome is a rare genetic condition that happens when a small piece is missing (deleted) from the short arm (p arm) of chromosome 6, from the very end (pter) up to the ...
Chromosome 5q12 Deletion Syndrome
Chromosome 5q12 deletion syndrome is a very rare genetic condition where a small piece is missing (deleted) from the long arm (q arm) of chromosome 5 in the 5q12 region. This missing piece removes or ...
Chromosome 5p13 Duplication Syndrome
Chromosome 5p13 duplication syndrome is a rare genetic condition where a small extra piece of DNA is copied (duplicated) on the short arm (p) of chromosome 5 in the area called 5p13. This extra copy ...
Chromosome 4q21 Deletion Syndrome
Chromosome 4q21 deletion syndrome (also called 4q21 microdeletion syndrome) is a rare genetic condition in which a small piece is missing from the long arm (q arm) of chromosome 4 in the region ...
Chromosome 3q29 Microduplication Syndrome
Chromosome 3q29 microduplication syndrome is a rare genetic condition. In this condition, a very small piece of chromosome 3, at a place called “3q29,” is copied one extra time. So, instead of having ...
3q29 Recurrent Microdeletion Syndrome
3q29 recurrent microdeletion syndrome is a rare genetic condition. In this condition, a tiny piece is missing (deleted) from the long arm of chromosome 3, in a place called 3q29. A chromosome is like ...
3q Subtelomere Deletion Syndrome
3q subtelomere deletion syndrome is another name for chromosome 3q29 microdeletion syndrome, a rare genetic condition where a very small piece is missing from the end (subtelomeric region) of the ...
Chromosome 3q29 Microdeletion Syndrome
Chromosome 3q29 microdeletion syndrome is a genetic condition where a person is missing a small piece of chromosome 3. The missing piece is on the long arm (“q”) at a place called q29. Because a few ...
Chromosome 3q13.31 Deletion Syndrome
Chromosome 3q13.31 deletion syndrome is a rare genetic condition where a small piece is missing (deleted) from the long arm of chromosome 3, in a region called 3q13.31. This missing piece removes one ...
Glass Syndrome
Glass syndrome is a rare genetic condition that affects the brain, face, teeth, bones, and behaviour. Doctors now usually call it SATB2-associated syndrome, because most people with Glass syndrome ...
Chromosome 2q32-q33 Deletion Syndrome
Chromosome 2q32-q33 deletion syndrome is a rare genetic condition where a small piece of chromosome 2, in the area called 2q32 to 2q33, is missing. This missing piece includes an important gene ...
Chromosome 2p16.1-p15 Deletion Syndrome
Chromosome 2p16.1-p15 deletion syndrome is a rare genetic condition. A very small piece is missing (deleted) from the short arm (“p arm”) of chromosome 2, in a region called 2p16.1-p15. This missing ...
Chromosome 22q11.2 Microduplication Syndrome
Chromosome 22q11.2 microduplication syndrome means there is a tiny extra piece of DNA on one copy of chromosome 22, in a place called 22q11.2. This small extra piece is called a “microduplication.” ...
