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Results 1 - 10 of 10 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. 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
  5. Down syndrome 
    ... on PubMed Shapiro BL. Down syndrome and associated congenital malformations. J ... Citation on PubMed
    https://medlineplus.gov/genetics/condition/down-syndrome - Genetics
  6. 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
  7. 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
  8. 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
  9. 48,XXYY syndrome 
    48,XXYY syndrome is a ... to form. Affected individuals are also at risk of developing a type of clot ...
    https://medlineplus.gov/genetics/condition/48xxyy-syndrome - Genetics
  10. 17q12 deletion syndrome 
    17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. The deletion occurs on the long (q) arm ...
    https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome - Genetics