[Pentasomy X: a clinical case report].
Cytogenetic investigations gave evidence of pentasomy X in a 3-year-old female with typical facies and psychomotor retardation. The parents and the grandparents showed a normal karyotype. The clinical symptoms of our case were compared with the other authors, we found a low birth weight, short stature, delayed expressive language, multiple abnormalities of craniofacial skeleton and some minor deformities of the arts. The parental origin of the extra set of X chromosome were determined by the restriction fragment length analysis (RFLPs) using the very polymorphic probes M27beta, L1.28 and St14. These data support the hypothesis of a maternal meiotic double non-disjunction.
Divisione di Pediatria, Ospedale Civico di Chivasso, Italia.
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D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007621:Karyotyping; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D012729:Sex Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome
Pentasomia X: descrizione di un caso clinico.