User Posts: Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
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Chromosome 15q24 Deletion Syndrome
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Chromosome 15q24 deletion syndrome is a rare genetic condition where a small part of the long arm (q arm) of chromosome 15, in the 15q24 region, is missing. ...

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Chromosome 15q13.3 Microdeletion Syndrome
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Chromosome 15q13.3 microdeletion syndrome happens when a tiny piece is missing (deleted) from the long arm (q) of chromosome 15, in a place called q13.3. This ...

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Chromosome 15q11.2 Deletion Syndrome
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Chromosome 15q11.2 deletion syndrome happens when a very tiny piece is missing from the long arm (q arm) of chromosome 15, in a place called 15q11.2. This ...

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Chromosome 13q14 Deletion Syndrome
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Chromosome 13q14 deletion syndrome is a rare genetic condition that happens when a small piece of the long arm (q arm) of chromosome 13 is missing in the 13q14 ...

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Chromosome 10q23 Deletion Syndrome
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Chromosome 10q23 deletion syndrome is a rare genetic condition that happens when a small piece is missing (deleted) from the long arm (q arm) of chromosome 10, ...

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Chromosome 1 Uniparental Disomy 1q12 q21
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Chromosome 1 is the largest human chromosome. It has a short arm called “p” and a long arm called “q.” The region between bands 1q12 and 1q21 is a stretch on ...

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Chromophobe Renal Cell Adenocarcinoma
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Chromophobe renal cell adenocarcinoma (usually called chromophobe renal cell carcinoma, chRCC) is a rare type of kidney cancer. It starts in special cells ...

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Chromophobe Renal Cell Carcinoma
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Chromophobe renal cell carcinoma (chromophobe RCC) is a rare type of kidney cancer that starts in the lining cells of the tiny tubes in the kidney that help ...

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Mossy Foot Disease
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Mossy foot disease is a long-term swelling of the feet and lower legs that happens when people walk barefoot for many years on special irritant soils, usually ...

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Chromoblastomycosis
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Chromoblastomycosis is a long-lasting (chronic) fungal infection that affects the skin and the tissue just under the skin (subcutaneous tissue). In this ...

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X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome
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X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome is a very rare genetic brain disorder. Doctors ...

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X-linked Angelman-Like Syndrome
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X-linked Angelman-like syndrome is a very rare brain and nerve (neurologic) condition that mostly affects boys. It happens when there is a change (mutation) in ...

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SLC9A6-Related Syndromic Mental Retardation
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SLC9A6-related syndromic mental retardation is a rare genetic brain disorder that mainly affects boys and leads to severe intellectual disability, problems ...

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Intellectual Disability Microcephaly Epilepsy, and Ataxia Syndrome
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Intellectual disability, microcephaly, epilepsy, and ataxia syndrome is the long, descriptive name for a very rare brain development condition that most ...

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X-linked Syndromic Intellectual Developmental Disorder
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X-linked syndromic intellectual developmental disorder is not just one disease. It is a big group of rare genetic conditions where a child has intellectual ...

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Christianson Syndrome
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Christianson syndrome is a rare genetic condition that mainly affects the brain and nervous system. It usually shows up in the first year of life. Babies and ...

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Choroiditis
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Choroiditis means inflammation in the choroid, which is a thin, rich blood-vessel layer under the retina at the back of the eye. This layer feeds the retina ...

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Xq21 Microdeletion Syndrome
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Xq21 microdeletion syndrome happens when a very small piece is missing from the long arm of the X chromosome, in a region called “Xq21.” This missing piece ...

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Xq21 Deletion Syndrome
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Xq21 deletion syndrome is a very rare genetic condition where a small missing piece (deletion) on the long arm of the X chromosome, in a region called Xq21, ...

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Ayazi Syndrome
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Ayazi syndrome is a very rare genetic disease. It happens when a small piece is missing (deleted) from a special part of the X chromosome called Xq21. This ...

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