RESUMEN
Pallister-Killian syndrome (PKS), a rare disorder, is characterized by tissue-limited or tissue-specific mosaicism. The characteristic chromosome abnormality associated with PKS is i(12p), which is seen predominantly in skin fibroblast cultures. Diagnosis of i(12p) has been carried out on buccal smears before and was shown to be an easy and feasible method. All previously published studies used alpha-satellite probes for the diagnosis and as such have several pitfalls. Our approach, using dual-color, locus-specific probes, has high specificity and sensitivity for the diagnosis of i(12p). Using statistical analysis, we have also confirmed that the signal pattern in interphase nuclei is consistent with isochromosome 12p.
Asunto(s)
Anomalías Múltiples/genética , Cromosomas Humanos Par 12 , Hibridación Fluorescente in Situ/métodos , Mosaicismo , Anomalías Múltiples/diagnóstico por imagen , Adulto , Sondas de ADN , Interpretación Estadística de Datos , Femenino , Enfermedades Fetales/diagnóstico por imagen , Humanos , Recién Nacido , Cariotipificación , Masculino , Mucosa Bucal , Embarazo , Sensibilidad y Especificidad , Ultrasonografía PrenatalRESUMEN
We report a case of nodular fasciitis with a reciprocal translocation involving both homologues of chromosome 15 [46,XX,t(15;15)(q13;q25)]. This is the third case of nodular fasciitis with involvement of chromosome 15. Two genes that are involved in either wound healing and/or tumorigenesis have been mapped to chromosome 15. One of the genes, the keratinocyte growth factor or fibroblast growth factor 7 (KGF or FGF7) was mapped to the 15q22 region, which was involved in a cytogenetic rearrangement in one case of nodular fasciitis. KGF is implicated in wound healing, healing lung injuries and tumorigenesis of various cancers such as breast and prostate. The second gene involved is TRKC or NTRK3 mapped to the 15q25 region. TRKC is implicated in congenital fibrosarcoma, a benign proliferation of fibroblasts. The breakpoint and overexpression of the protein in our case further suggest a possible involvement of TRKC.
Asunto(s)
Cromosomas Humanos Par 15 , Fascitis/genética , Translocación Genética , Adulto , Clavícula , Fascitis/patología , Femenino , Factor 7 de Crecimiento de Fibroblastos , Factores de Crecimiento de Fibroblastos/genética , Humanos , Receptor trkC/genéticaRESUMEN
Wolf-Hirschhorn syndrome (WHS) and Patau syndrome are two of the most severe conditions resulting from chromosome abnormalities. WHS is caused by a deletion of 4p16, while Patau syndrome is caused by trisomy for some or all regions of chromosome 13. Though the etiologies of these syndromes differ, they share several features including pre- and postnatal growth retardation, microcephaly, cleft lip and palate, and cardiac anomalies. We present here a female fetus with deletion of 4p16 --> pter and duplication of 13q32 --> qter due to unbalanced segregation of t(4;13)(p16;q32) in the father. She displayed overlapping features of both of these syndromes on ultrasound. To the best of our knowledge, this is the first report of a fetus with both partial trisomy 13 and deletion of 4p16, the critical region for WHS.