Biomedical subjects
Publications and source records attributed to E Juillard.
We report three cases of Turner syndrome 45,X/46,XX with spontaneous menstruations. Two patients had together four pregnancies with a normal girl, a malformed boy and two miscarriages. The outcome of the pregnancy in such a women is discussed with a review of the literature.
The clinical features and the ovary biopsy findings of two cases of ovarian hypoplasia are presented. Both patients, 20 and 34 years of age, complained of primary amenorrhea. One patient presented growth retardation with genital and breast infantilism. The other patient, who received substitutive estrogen therapy, displayed normal adult secondary sexual characteristics. The chromosomal karyotype was 46,XX in both patients. The internal genital organs were hypoplastic. In the ovaries, the follicular maturation did not go beyond the secondary follicles which underwent atresia with a strange process of calcification beginning in the ova. The etiologic factors of this phenomenon are unknown. The authors found only one analogous case in the literature.
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A unique case of a prepubertal XX male with profound mental and physical retardation, retinitis pigmentosa, ambiguous genitalia and multiple congenital anomalies is reported. His clinical, genetic, dermatoglyphic and histological findings are presented. This case could represent a new multiple congenital malformation syndrome. Theories on XX male aetiology are briefly discussed.
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The authors describe three unrelated families who had a pericentric inversion of chromosome 9. Three female patients and 9 out of 16 members of their families were heterozygous carriers of the same chromosomal recombination. This anomaly has been found with a frequency of about 1% in our laboratory. The different clinical and cytogenetic implications are briefly discussed.
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The first child of a mother with a balanced translocation (9;13) revealed a trisomy for the distal third of 13q. Clinical signs were microcephaly, hemangiomata, long incurved eyelashes, strabismus, enlarged bridge of the nose, abnormally long philtrum, high-arched palate, low set ears, hexadactyly of the four extremities, umbilical and inguinal hernias, neonatal respiratory distress, psychomotor and growth retardation. The proband presented also male pseudohermaphroditism and trigonocephaly. This last trait is the object of a discussion in which cases of partial trisomy 13q cited in the literature are considered for study of the incidence of this dyscephaly in this partial syndrome.
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