[Genetic male infertility and medically assisted reproduction].

About half the cases of infertility have their origin in the male partner. Infertility due to males has several possible aetiologies. In about 30% of cases, genetic disorders are suspected of being the main cause.

Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.

Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity. We report here the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 11 families affected by various forms of hypophosphatasia. Nineteen distinct mutations were found, 7 of which were previously reported.

Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk.

Junctional epidermolysis bullosa with pyloric atresia (PA-JEB) is a highly lethal, inherited, autosomal recessive disease. Thus far, prenatal diagnosis of this syndrome was only realized on pregnancies at risk for recurrence. We report the case of a 26-year-old woman, first cousin to her husband, who had undergone amniocentesis for polyhydramnios.

Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.

Diffuse leiomyomatosis (DL) with Alport syndrome (AS) has been shown to be associated with contiguous gene deletions of the COL4A5 and COL4A6 genes, with the COL4A6 breakpoint of the deletions invariably located in the large intron 2 of the gene. We describe four YAC clones covering the locus and a refined restriction map of the entire COL4A6 gene. These resources have allowed us to make a precise estimate of the size of COL4A6 introns 2 and 3, as well as the size of the gene itself.

Myelodysplastic syndrome with t(5;12)(q31;p12-p13) and eosinophilia: a pediatric case with review of literature.

Purpose: Myelodysplastic syndrome with chromosomal translocation t(5;12)(q31-33;p12-13) and eosinophilia is a new entity recently described. Nine cases have been described in adults. We report the first pediatric case with a long follow-up (7 years).

Molecular analysis of 53 fragile X families with the probe StB12.3.

Fifty-three pedigrees with the fragile X syndrome have been studied for amplification of the CGG repeat sequence adjacent to the CpG island in the FMR1 gene. Probe StB12.3 allowed direct detection of affected males, carrier females, normal transmitting males, as well as prenatal diagnosis.

The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92.

Previous linkage studies in X-linked spondyloepiphyseal dysplasia (SEDL) placed the gene in the region Xp22.2-p22.1 by linkage to DXS41.

Phenotype-genotype correlations in X linked retinitis pigmentosa.

Retinitis pigmentosa (RP) represents a group of clinically heterogeneous retinal degenerations in which all modes of inheritance have been described. We have previously found two different clinical profiles in X linked RP as a function of age and mode of onset. The first clinical form has very early onset with severe myopia.

[Malaria and pregnancy. Report of a case of congenital Plasmodium falciparum malaria].

We report a case of congenital malaria due to a chloroquine-resistant strain of Plasmodium falciparum acquired in Mali. Ours is the first report of chloroquine-resistant congenital malaria in this part of Africa. We recall the various pathophysiologic, diagnostic and therapeutic features of this disease that should be considered in every neonate born to a mother who may have malaria.

[Hemophilic arthropathies. Apropos of 51 cases].

After defining the clinical, roentgenological and anatomic features of the various kinds of hemophilia-related joint disease (acute hemarthrosis, subacute arthritis, and chronic joint disease), we present a study of outcomes in fifty-one hemophiliac children aged 0 to 15 years and followed-up from January 1968 through December 1987 at the Angers Regional University Hospital. Four hundred and sixty-four cases of hemarthrosis were seen. Risk factors for hemarthrosis were severe hemophilia and age between 5 and 15 years, and the joints most often involved were the ankles, knees, and elbows.

[What course should be adopted after the discovery of a gonosome anomaly in the fetal karyotype?].

An experience of three centers of genetic counselling (West France). The authors attempts to explain why in 9 cases the pregnancy was not terminated.

[Amniotic alpha 1-foetoprotein of the 17th week of pregnancies with amenorrhea (author's transl)].

The amniotic alpha 1-foetoprotein of the 17th week of pregnancies with amenorrhea was tested by electroimmunodiffusion and radioimmunology. The results show a very good correlation between both methods. We can see from this study the possibility for any laboratory to test alpha 1-foetoprotein in amniotic fluid of patients with high risk pregnancies, as the beginning of pregnancy when amniotic punction is necessary without using radioimmunology.

[Branchio-oto-renal malformation syndrome (author's transl)].

After a brief review of the dysgenetic abnormalities which may affect the ear, branchial arches and pouches and the kidneys, the authors summarise those syndromes associating abnormalities of the ear and kidney on the one hand, and secondly abnormalities of the ear and facial and cervical fistulae. However, they are specifically interested in the branchio-oto-renal syndrome, reporting 5 cases. The syndrome combines deafness (middle ear and inner ear), pre-auricular and cervical fistulae and renal abnormalities.

[The fertility of trisomy 21 sufferers. One case (author's transl)].

A case of pregnancy in a patient with trisomy 21 with birth of a hypotrophic infant, with a normal caryotype but multiple malformations. This case illustrates the limitations on antenatal diagnosis by amniocentesis. Study of the literature confirms the unfavourable foetal prognosis as a result of the risk of transmission of the chromosomal abnormality and, secondly, the prevalence of incest.

[Amniocentesis in a woman with trisomy 21 and a fetus with normal karyotype but with abnormalities].

The limitation of amniocentesis is emphasised by a mother with trisomy 21 who had a baby with a normal karyotype but with malformations. The question is posed whether half the infants of women with trisomy 21 are normal and half have a trisomy. With more observations it may become apparent that there are an excess of children without the trisomy.

[Rudiger (E. E. C.) syndrome: report of a case associated with atopic dermatitis (author's transl)].

The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip-palate is described in a boy aged 3; although inherited in most cases as an autosomal dominant trait, it seems here to be sporadic. An atopic dermatitis clinically evident and particularly resistant to treatment is present, but IgE level is not raised. Ophthalmologic changes are prominent.