Trisomy 9: first neonatal clinical case reported in Ecuador.
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Abstract
Background: Trisomy 9, or Rethoré syndrome, is the fourth most frequent chromosome disorder after trisomy 21, 13, and 18. This trisomy may be caused by partial or complete duplication of the short arm of chromosome 9; this may be caused by two cell lines with different genetic coexisting lineages found in the same person, or they can also present cases with segmental aneusomies. Case report: A male newborn of the fifth pregnancy of a 41-year-old mother with apparently normal controls and ultrasounds without reports of complications. At his birth, multiple craniofacial and extremity malformations were evidenced, associated with ambiguous genitalia. A physical examination and basic laboratory studies were used to define the phenotypic expression; transfontanellar echography reported hypoplasia or agenesia of the cerebellar vermis accompanied by cerebellar hypoplasia. The testicular echography did not identify testicles or masses. Due to the multiple malformations, a karyotype was carried out, reporting 47,XY,+9 in all the analyzed metaphases. Conclusion: Early prenatal detection is essential; the ultrasound data that was revealed in imaging studies, despite not being specific for aneuploidy, are the first step to continue with a cytogenetic study and identify the chromosomal pathology.
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