Tetrasomy 18p Initially Misdiagnosed as Cerebral Palsy in an Adult Patient.
Cureus
; 13(11): e20053, 2021 Nov.
Article
em En
| MEDLINE
| ID: mdl-34993029
ABSTRACT
Tetrasomy 18p is a rare genetic condition characterized by a supernumerary 18p isochromosome with two copies of the p arm of chromosome 18 causing patients to have an extra chromosome. Most cases are de novo; however, a few maternally inherited cases have been reported. The most commonly reported manifestations of this condition are developmental delay, cognitive impairments, muscle tone abnormalities, and dysmorphic facial features. This case details a new diagnosis of tetrasomy 18p in a 42-year-old adult who was initially diagnosed with cerebral palsy as a child. We compare the phenotypic traits of our patient with the ones reported in the literature.
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MEDLINE
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En
Ano de publicação:
2021
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Article