Bol Med Hosp Infant Mex. 1989 Jun;46(6):417-21.

[Penta-X syndrome. Report of a case with 47,XXX/48,XXXX/49,XXXXX mosaicism].

[Article in Spanish]

Gómez-Valencia L, Nájera-Martínez P, Morales-Hernández A, Martínez-Díaz De León A.

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.

PMID:: 2665783; [PubMed - indexed for MEDLINE]

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