RESUMO
After lymphocyte culture, chromosomic study has been performed on a woman and her daughter suffering from incontinentia pigmenti as well as on the two healthy brothers. This study has shown a high rate of chromosomic breakage in the four subjects, which confirms the facts mentioned in several previous reports. As far as genetic advice is concerned, the discovery of an excess of chromosomic breakage in a healthy subject who is a close relative of a patient, should prompt caution.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Transtornos da Pigmentação/genética , Adulto , Feminino , Humanos , Recém-NascidoRESUMO
Two cases of incontinentia pigmenti in a mother and her daughter are reported. An increase in structural chromosome aberrations of the chromatid type was observed, as already described by other authors. The aberrations rate in the same individual varied from culture to culture. Chromosomal breakage was also increased in apparently healthy family members.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Transtornos da Pigmentação/genética , Feminino , Humanos , Lactente , SíndromeRESUMO
A survey carried out by questionnaire was performed among parents accompanying their children to the emergency department of the Lenval's children hospital in order to determine their opinion on the quality of the reception and care. The questionnaire was distributed to 2,382 parents. A total of 719 questionnaires (30.2%) were returned. A large majority of the parents (99%) expressed their satisfaction with the care and reception in the emergency department. The necessary improvements following this survey concern the duration of waiting prior to the consultation and the quality of the reception in the radiological and admittance departments; it is hoped that the radiological and admittance areas will be included within the emergency department, in the future.