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  5. Chromosome 3- monosomy 3q27

Chromosome 3- monosomy 3q27

December 31, 2014

Latest Research

  • "Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype
  • 3q27.3 Microdeletion syndrome: further delineation of the second region of overlap and atopic dermatitis as a phenotypic feature
  • 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder
  • A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb
  • An additional patient with 3q27.3 microdeletion syndrome
More Research
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