Rx Autoimmune, Genetic and Rare Diseases (A – Z)
0
Chromosome 8-Derived Supernumerary Ring/Marker
0

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. ...

0
Chromosome 6q24–q25 Deletion Syndrome
0

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 ...

0
6p Subtelomeric Deletion Syndrome
0

6p subtelomeric deletion syndrome (also called chromosome 6pter-p24 deletion syndrome, distal deletion 6p, 6p25 microdeletion syndrome or distal monosomy 6p) ...

0
Chromosome 6pter-p24 Deletion Syndrome
0

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 ...

0
Chromosome 5q12 Deletion Syndrome
0

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 ...

0
Chromosome 5p13 Duplication Syndrome
0

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 ...

0
Chromosome 4q21 Deletion Syndrome
0

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 ...

0
Chromosome 3q29 Microduplication Syndrome
0

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 ...

0
3q29 Recurrent Microdeletion Syndrome
0

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 ...

0
3q Subtelomere Deletion Syndrome
0

3q subtelomere deletion syndrome is another name for chromosome 3q29 microdeletion syndrome, a rare genetic condition where a very small piece is missing from ...

0
Chromosome 3q29 Microdeletion Syndrome
0

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 ...

0
Chromosome 3q13.31 Deletion Syndrome
0

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 ...

0
Glass Syndrome
0

Glass syndrome is a rare genetic condition that affects the brain, face, teeth, bones, and behaviour. Doctors now usually call it SATB2-associated syndrome, ...

0
Chromosome 2q32-q33 Deletion Syndrome
0

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 ...

0
Chromosome 2p16.1-p15 Deletion Syndrome
0

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 ...

0
Chromosome 22q11.2 Microduplication Syndrome
0

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 ...

0
Distal Chromosome 22q11.2 Deletion Syndrome
0

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 ...

0
Chromosome 1q41-q42 Deletion Syndrome
0

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 ...

0
Chromosome 1q21.1 Recurrent Microduplication Susceptibility Locus for Neurodevelopmental Disorders
0

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 ...

0
Chromosome 1q21.1 Duplication Syndrome
0

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 ...

RxHarun
Logo