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Results 1 - 10 of 26 for Aneuploidy
  1. Mosaic variegated aneuploidy syndrome 
    Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 ...
    https://medlineplus.gov/.../mosaic-variegated-aneuploidy-syndrome - Genetics
  2. 49,XXXXY syndrome 
    ... 49,XXXXY chromosomal anomaly Chromosome XXXXY syndrome XXXXY aneuploidy XXXXY syndrome Genetic Testing Registry: 49,XXXXY syndrome ...
    https://medlineplus.gov/genetics/condition/49xxxxy-syndrome - Genetics
  3. Klinefelter syndrome 
    ... Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter Syndrome, XYY, and XXYY. J Dev ...
    https://medlineplus.gov/genetics/condition/klinefelter-syndrome - Genetics
  4. 47,XYY syndrome 
    ... Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter Syndrome, XYY, and XXYY. J Dev ...
    https://medlineplus.gov/genetics/condition/47xyy-syndrome - Genetics
  5. 48,XXXY syndrome 
    ... Graham JM Jr. Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY. Am ...
    https://medlineplus.gov/genetics/condition/48xxxy-syndrome - Genetics
  6. 48,XXYY syndrome 
    ... JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis. 2006 Oct 24;1: ...
    https://medlineplus.gov/genetics/condition/48xxyy-syndrome - Genetics
  7. Ataxia-pancytopenia syndrome 
    Ataxia-pancytopenia syndrome is a rare condition that affects the part of the brain that coordinates movement (the cerebellum) and blood-forming cells in the ...
    https://medlineplus.gov/.../condition/ataxia-pancytopenia-syndrome - Genetics
  8. BUB1B gene 
    ... gene have been found to cause mosaic variegated aneuploidy (MVA) syndrome type 1. This condition is characterized ... abnormal numbers of chromosomes, a situation known as aneuploidy. Affected individuals grow slowly and have an unusually ...
    https://medlineplus.gov/genetics/gene/bub1b - Genetics
  9. What is noninvasive prenatal testing (NIPT) and what disorders can it screen for?: MedlinePlus Genetics 
    ... the presence of an extra or missing copy ( aneuploidy ) of a chromosome. NIPT primarily looks for Down ... methods to analyze fetal cfDNA. To determine chromosomal aneuploidy, the most common method is to count all ...
    https://medlineplus.gov/genetics/understanding/testing/nipt - Genetics
  10. CEP57 gene 
    ... mutations have been found to cause mosaic variegated aneuploidy (MVA) syndrome type 2. This condition is characterized ... abnormal numbers of chromosomes, a situation known as aneuploidy. Affected individuals grow slowly before and after birth ...
    https://medlineplus.gov/genetics/gene/cep57 - Genetics
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