Int22h1/int22h2-mediated Xq28 recurrent microduplication syndrome is a rare genetic condition where a very small extra piece of the X chromosome is copied one ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Chromosome Xq28 duplication syndrome is a rare genetic condition. A small extra piece of the X chromosome is copied (duplicated) in a region called “q28.” This ...
Glycerol kinase deficiency-contiguous gene syndrome is a very rare genetic disease that happens when a small piece of the X chromosome (area called Xp21) is ...
Chromosome Xp21 deletion syndrome is a rare genetic condition. It happens when a small piece of the X chromosome (in the Xp21 area) is missing (deleted). ...
X-linked dominant Xp11.23–p11.22 duplication syndrome (also called Xp11.22–p11.23 duplication / microduplication syndrome) is a rare genetic condition where a ...
Chromosome Xp11.23–p11.22 duplication syndrome is a rare genetic condition where a person has an extra copy (a duplication) of a small segment on the short arm ...
Partial deletion of the short arm of chromosome 9” means a person is missing a piece of DNA from the short arm (called “p”) of chromosome 9 in some or all body ...
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 ...
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.” ...
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 ...
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-derived supernumerary ring/marker is a very rare chromosome problem where a person has a tiny extra chromosome made from part of chromosome 8. ...
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 ...
6p subtelomeric deletion syndrome (also called chromosome 6pter-p24 deletion syndrome, distal deletion 6p, 6p25 microdeletion syndrome or distal monosomy 6p) ...
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 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 ...
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 ...
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 ...
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 ...
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 ...
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