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Results 1 - 10 of 14 for Congenital chromosomal disease
  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. Down syndrome 
    ... on PubMed Shapiro BL. Down syndrome and associated congenital malformations. J ... Citation on PubMed
    https://medlineplus.gov/genetics/condition/down-syndrome - Genetics
  8. Cri-du-chat syndrome 
    ... who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals ... J, Schimmenti L. Cri du chat syndrome and congenital heart disease: a review of previously reported cases and presentation ...
    https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome - Genetics
  9. Rothmund-Thomson syndrome 
    ... not show signs and symptoms of the condition. ... LL, Kaariainen H, Kestila M. The mutation spectrum in RECQL4 diseases. Eur J Hum Genet. 2009 Feb;17(2): ...
    https://medlineplus.gov/genetics/condition/rothmund-thomson-syndrome - Genetics
  10. Heterotaxy syndrome 
    ... complications are generally caused by critical congenital heart disease, a group of ... chromosomal changes such as insertions, deletions, duplications, and other ...
    https://medlineplus.gov/genetics/condition/heterotaxy-syndrome - Genetics
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