User Posts: Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
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3q Subtelomere Deletion Syndrome
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3q subtelomere deletion syndrome is another name for chromosome 3q29 microdeletion syndrome, a rare genetic condition where a very small piece is missing from ...

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Chromosome 3q29 Microdeletion Syndrome
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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 ...

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Chromosome 3q13.31 Deletion Syndrome
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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 ...

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

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Chromosome 2q32-q33 Deletion Syndrome
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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 ...

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Chromosome 2p16.1-p15 Deletion Syndrome
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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 ...

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Chromosome 22q11.2 Microduplication Syndrome
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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 ...

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Distal Chromosome 22q11.2 Deletion Syndrome
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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 ...

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Chromosome 1q41-q42 Deletion Syndrome
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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 ...

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

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Chromosome 1q21.1 Duplication Syndrome
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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 ...

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1q21.1 Recurrent Microdeletion Susceptibility Locus for Neurodevelopmental Disorders
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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 ...

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Chromosome 1q21.1 Deletion Syndrome
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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 ...

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Partial Deletion of the Long Arm of Chromosome 1
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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 ...

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1p36 Microdeletion Syndrome
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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 ...

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Chromosome 1p36 Deletion Syndrome
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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 ...

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Chromosome 1p32-p31 Deletion Syndrome
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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, ...

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Chromosome 19q13.11 Deletion Syndrome
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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 ...

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Chromosome 18 Mosaic Monosomy
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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, ...

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Chromosome 17q23.1-q23.2 Deletion Syndrome
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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 ...

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