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Results 1 - 10 of 57 for Autosomal chromosomal disorder
  1. 48,XXXY syndrome 
    ... newborn boys. It is a relatively uncommon sex chromosome disorder, which is a group of conditions caused by ... Y chromosome). 48,XXXY syndrome is a sex chromosome disorder in boys and men that results from having ...
    https://medlineplus.gov/genetics/condition/48xxxy-syndrome - Genetics
  2. 49,XXXXY syndrome 
    ... It is among the rarest of the sex chromosome disorders, which are conditions caused by changes in the ... Y chromosome). 49,XXXXY syndrome is a sex chromosome disorder is caused by having three extra X chromosomes ...
    https://medlineplus.gov/genetics/condition/49xxxxy-syndrome - Genetics
  3. Klinefelter syndrome 
    ... at birth. It is the most common sex chromosome disorder, which is a group of conditions caused by ... the Y chromosome). Klinefelter syndrome is a sex chromosome disorder in individuals who were assigned male at birth ...
    https://medlineplus.gov/genetics/condition/klinefelter-syndrome - Genetics
  4. X chromosome 
    ... sometimes described as a variation of another sex chromosome disorder called Klinefelter syndrome (described below). However, the features ... learned more about the differences between these sex chromosome disorders, they have started to consider them separate conditions. ...
    https://medlineplus.gov/genetics/chromosome/x - Genetics
  5. 3q29 microdeletion syndrome 
    ... Freedman AA, Zwick ME, Mulle JG; Unique Rare Chromosome Disorder Support Group. Novel features of 3q29 deletion syndrome: ...
    https://medlineplus.gov/.../condition/3q29-microdeletion-syndrome - Genetics
  6. Chromosome 3 
    ... Freedman AA, Zwick ME, Mulle JG; Unique Rare Chromosome Disorder Support Group. Novel features of 3q29 deletion syndrome: ...
    https://medlineplus.gov/genetics/chromosome/3 - Genetics
  7. 17q12 deletion syndrome 
    ... chromosome 17 This condition is inherited in an autosomal dominant pattern, which means one copy of the chromosomal deletion in each cell is sufficient to cause the disorder.Most cases of 17q12 deletion syndrome result from ...
    https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome - Genetics
  8. Infantile-onset spinocerebellar ataxia 
    ... Mitochondrial DNA depletion syndrome National Organization for Rare Disorders (NORD) MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7 PubMed Finsterer J. Ataxias with autosomal, X-chromosomal or maternal inheritance. Can J Neurol Sci. 2009 ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  9. Williams syndrome 
    ... with Williams syndrome.Williams syndrome is considered an autosomal dominant condition because one ... Beuren ...
    https://medlineplus.gov/genetics/condition/williams-syndrome - Genetics
  10. Trichorhinophalangeal syndrome type II 
    ... cases, people with TRPS II have inherited the chromosomal deletion from a parent with the ... Chromosome 8q24.1 deletion syndrome Giedion-Langer syndrome ...
    https://medlineplus.gov/.../trichorhinophalangeal-syndrome-type-ii - Genetics
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