Asunto(s)
Aberraciones Cromosómicas , Trastornos de los Cromosomas , Neoplasias Pélvicas/genética , Adolescente , Adhesión Celular , Bandeo Cromosómico , Cromosomas Humanos Par 1 , Cromosomas Humanos Par 21 , Cromosomas Humanos Par 22 , Femenino , Humanos , Cariotipificación , Neoplasias Pélvicas/patología , Translocación GenéticaRESUMEN
Mosaic trisomy 9 was detected in an amniotic fluid cell culture from a 40-year-old woman evaluated because of advanced maternal age. After counselling, parents elected to terminate the pregnancy. On autopsy the fetus was found to have hydrocephalus and a single kidney. The diagnosis of trisomy 9 mosaicism was confirmed in cultured skin fibroblasts. This is the third reported case of trisomy 9 mosaicism diagnosed prenatally.
Asunto(s)
Cromosomas Humanos Par 9 , Enfermedades Fetales/diagnóstico , Mosaicismo , Diagnóstico Prenatal , Trisomía , Adulto , Femenino , Enfermedades Fetales/genética , Humanos , Edad Materna , Embarazo , Embarazo de Alto RiesgoRESUMEN
We report two cases duplication of 9p. This investigation was prompted by the identification of two patients with minor congenital anomalies and mental retardation. Chromosomal karyotype in both patients revealed 9p duplication, one as a result of tandem duplication of 9p at band p13 leads to p24 and the other due to an extra and deleted chromosome number 9 (pter leads to cent leads to q13). Both patients has elevated galactose-1-phosphate-uridyl-transferase level demonstrating additional evidence for mapping GALT on the short arm of chromosome 9.