Asunto(s)
Pruebas Genéticas/métodos , Diagnóstico Prenatal/métodos , Investigación/normas , Femenino , Humanos , EmbarazoRESUMEN
A 31-year-old white female, 127 cm tall and with other findings of the Turner syndrome, had had normal menses and had become pregnant at ages 23 and 26 years. Chromosomal analyses of several tissues, including both ovaries, revealed only 45,X karyotypes. Both of her daughters had 46,XX karyotypes in lymphocytes. This patient and nine other reported cases of fertile, apparently nonmosaic 45,X women illustrate an extreme of ovarian function in the Turner syndrome and raise questions about the absolute need for XX oocytes in ovarian development. The possibility of pregnancy must be considered in all patients with Turner syndrome, a relatively common chromosomal disorder.
Asunto(s)
Complicaciones del Embarazo , Síndrome de Turner/complicaciones , Adulto , Cromosomas/análisis , Femenino , Humanos , EmbarazoRESUMEN
A black female with abnormal skin pigmentation, similar to that seen in hypomelanosis of Ito, and triphalangeal thumbs is presented. This association has not previously been reported.
Asunto(s)
Discapacidad Intelectual/genética , Trastornos de la Pigmentación/genética , Pulgar/anomalías , Niño , Cromosomas/ultraestructura , Dermatoglifia , Femenino , Trastornos del Crecimiento/genética , Humanos , CariotipificaciónAsunto(s)
Labio Leporino/genética , Fisura del Paladar/genética , Ectromelia/genética , Pene/anomalías , Anomalías Múltiples/genética , Peso al Nacer , Aberraciones Cromosómicas/genética , Trastornos de los Cromosomas , Consanguinidad , Disostosis Craneofacial/genética , Criptorquidismo/genética , Femenino , Trastornos del Crecimiento/genética , Humanos , Linfocitos/citología , Masculino , Mitosis , Linaje , Sindactilia/genética , SíndromeRESUMEN
The Roberts syndrome appears to follow an autosomal recessive mode of inheritance. The cause of the abnormalities probably exerts its effect prior to the seventh week of gestation and only on a few organ systems undergoing development during this time. The peculiar morphologic features of metaphase chromosomes of the one individual who has been studied extensively are unexplained.