RESUMEN

We report on a 17-year-old patient with midline defects, ocular hypertelorism, neuropsychomotor development delay, neonatal macrosomy, and dental anomalies. DNA copy number investigations using a Whole Genome TilePath array consisting, of 30K BAC/PAC clones showed a 6.36 Mb deletion in the 9p24.1-p24.3 region and a 14.83 Mb duplication in the 20p12.1-p13 region, which derived from a maternal balanced t(9;20)(p24.1;p12.1) as shown by FISH studies. Monosomy 9p is a well-delineated chromosomal syndrome with characteristic clinical features, while chromosome 20p duplication is a rare genetic condition. Only a handful of cases of monosomy 9/trisomy 20 have been previously described. In this report, we compare the phenotype of our patient with those already reported in the literature, and discuss the role of DMRT, DOCK8, FOXD4, VLDLR, RSPO4, AVP, RASSF2, PROKR2, BMP2, MKKS, and JAG1, all genes mapping to the deleted and duplicated regions.

Asunto(s)

Patrón de Herencia , Trisomía/genética , Cariotipo Anormal , Adolescente , Preescolar , Deleción Cromosómica , Mapeo Cromosómico , Cromosomas Humanos Par 20/genética , Cromosomas Humanos Par 9/genética , Hibridación Genómica Comparativa/métodos , Variaciones en el Número de Copia de ADN , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/patología , Factores de Transcripción Forkhead/genética , Genoma Humano , Factores de Intercambio de Guanina Nucleótido/genética , Humanos , Hibridación Fluorescente in Situ , Discapacidad Intelectual/genética , Discapacidad Intelectual/patología , Masculino , Metafase , Examen Físico , Trisomía/diagnóstico , Trisomía/patología