title: [Penta-X syndrome. Report of a case with 47,XXX/48,XXXX/49,XXXXX mosaicism].
abstract: A two year five months old girl is presented with chromosomic complement 47,XXX/48,XXXX/49,XXXXX and presence of 2, 3 and 4 corpuscles in the nuclei of epithelial cells of oral mucosa. It is clinically characterized by short stature, mental retardation, generalized hypotony, bilateral elbow sub-luxation, mesotaurodontism and patent ductus arteriosus. The comparison of the clinical findings between the reported mosaics and the present case indicate the dealing with a specific pattern, recognizable clinically. In the etiologic analysis of this disease the review of pertinent literature suggests the occurrence of successive non-disjunction of the chromosomes X in more than one postzygotic divisions originating more than two stem-cell lines.
authors.forename: L
authors.initials: L
authors.lastname: Gómez-Valencia
authors.forename: P
authors.initials: P
authors.lastname: Nájera-Martínez
authors.forename: A
authors.initials: A
authors.lastname: Morales-Hernández
authors.forename: A
authors.initials: A
authors.lastname: Martínez-Díaz De León
mesh_terms: D002675:Child, Preschool; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D009030:Mosaicism; D012729:Sex Chromosome Aberrations / Q000235:genetics; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014960:X Chromosome
vernacular_title: Síndrome penta-X. Informe de un caso con mosaicismo 47,XXX/48,XXXX/49,XXXXX.