RESUMEN
We present a family with an unusual association of two frequent genetic disorders, 22q11.2 microdeletion and fragile X syndrome, originating from the same parent. Our observation confirms the wide intrafamilial clinical variability of the 22q11.2 microdeletion and illustrates the difficulty of the clinical diagnosis for the fragile X syndrome in affected females.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 22/genética , Síndrome del Cromosoma X Frágil/genética , Núcleo Familiar , Preescolar , Síndrome de DiGeorge/genética , Femenino , Humanos , Lactante , Recién Nacido , Discapacidad Intelectual/genética , Masculino , Mutación/genética , Linaje , Embarazo , Tetralogía de Fallot/genéticaRESUMEN
Co-occurrent autoimmune disease and fragile X syndrome has been reported in the literature and we have therefore studied the expansion of Cytosine-Guanine-Guanine (CGG) repeat in FMR1 gene in a series of females with autoimmune diseases such as systemic lupus erythematosus and Sjögren's syndrome, with PCR and Southern blot methods. The average length of trinucleotide repeat was not increased in these female patients as compared with controls. These preliminary data on a short series of patients suggest a possible absence of trinucleotide repeat expansion abnormality associated with autoimmune diseases such as systemic lupus erythematosus and Sjögren's syndrome.