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Agénésie Sacrococcygienne et Syndrome de Bonnevie-Ullrich Étude Génétique et Chromosomique

Published online by Cambridge University Press:  01 August 2014

I. Emerit ,
J. de Grouchy ,
P. Corone ,
P. Vernant  and
M. Laval-Jeantet
I. Emerit
Affiliation:
Chaire de Cardiologie (Professeur P. Soulié), Hôpital Broussais et Clinique de Génétique Médicale (Professeur Maurice Lamy), Hôpital des Enfants-Malades et Service Central de Radiologie de l'Hôpital Broussais-Paris, (France)
J. de Grouchy
Affiliation:
Chaire de Cardiologie (Professeur P. Soulié), Hôpital Broussais et Clinique de Génétique Médicale (Professeur Maurice Lamy), Hôpital des Enfants-Malades et Service Central de Radiologie de l'Hôpital Broussais-Paris, (France)
P. Corone
Affiliation:
Chaire de Cardiologie (Professeur P. Soulié), Hôpital Broussais et Clinique de Génétique Médicale (Professeur Maurice Lamy), Hôpital des Enfants-Malades et Service Central de Radiologie de l'Hôpital Broussais-Paris, (France)
P. Vernant
Affiliation:
Chaire de Cardiologie (Professeur P. Soulié), Hôpital Broussais et Clinique de Génétique Médicale (Professeur Maurice Lamy), Hôpital des Enfants-Malades et Service Central de Radiologie de l'Hôpital Broussais-Paris, (France)
M. Laval-Jeantet
Affiliation:
Chaire de Cardiologie (Professeur P. Soulié), Hôpital Broussais et Clinique de Génétique Médicale (Professeur Maurice Lamy), Hôpital des Enfants-Malades et Service Central de Radiologie de l'Hôpital Broussais-Paris, (France)

Summary

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A child, aged 11, with female phenotype, associating a sacrococcygeal agenesis to Bonnevie-Ullrich's syndrome, without gonadal dysgenesis, is described. The patient's caryotype is a normal female one (44 A, XX). No similar cases could be found in the literature.

This association of two syndromes of undetermined origin is probably fortuitous. A genetic study of 65 pedigrees from the literature did not reveal a mendelian type of inheritance. The possibility of external factors having occurred during embryonic life is discussed.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 13 , Issue 1 , January 1964 , pp. 69 - 89
Copyright
Copyright © The International Society for Twin Studies 1964

References

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