[Penta-X syndrome. Report of a case with 47,XXX/48,XXXX/49,XXXXX mosaicism].
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.
Gómez-Valencia
L
L
Nájera-Martínez
P
P
Morales-Hernández
A
A
Martínez-Díaz De León
A
A
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
Síndrome penta-X. Informe de un caso con mosaicismo 47,XXX/48,XXXX/49,XXXXX.