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B Le Marec

Publications and source records attributed to B Le Marec.

At least 91 records · Page 5Linked to original sources
PubMed1985

[Neonatal Steinert's disease: apropos of 2 cases in 2 successive generations].

Description of a family who presents two cases of neonatal myotonic dystrophy (Steinert's disease) in two successive generations. The authors summarize the different genetic theories generally advanced; they sum up the antenatal means of diagnostic that is based on the knowledge of linkage of the loci for myotonic dystrophy and Lutheran blood group.

Adult↗
PubMed1985

Trisomy 11p15 and Beckwith-Wiedemann syndrome. Report of two new cases.

An association between trisomy 11p15 and Beckwith-Wiedemann syndrome is described in two brothers. The first presented at birth with gigantism and macroglossia, umbilical hernia and abdominal distention, hypoglycemia and atresia of the pulmonary artery, leading to the diagnosis of Beckwith-Wiedemann syndrome. Facial dysmorphism also included: a hypoplastic midface, hypertelorism, and a short nose with a flattened bridge. The karyotype showed a trisomy 11p15 with a monosomy 18p11, due to a t(11;18)(p154;p111)pat. His brother, born a year later, showed the same signs. The association between trisomy 11p15 and Beckwith-Wiedemann syndrome is in certain cases well established.

Beckwith-Wiedemann Syndrome↗
PubMed1985

[Trisomy 20p derived from a maternal pericentric inversion and brachymesophalangy of the index finger].

The article brings to light the very first case of trisomy 20p resulting from a maternal pericentric inversion in a 2 1/2-year old boy. The study outlines the characteristic clinical features of the syndrome, i.e. round face, upslanting palpebral fissures, microretrognathia, normal growth, slight psycho-motor retardation and congenital heart defects. The association of the der(20) inv(20) (p112q133) mat and brachymesophalangy of index ("Mohr-Wriedt" type of brachydactyly) enables the authors to suggest that chromosome 20 may be held responsible for this particular malformation.

Child, Preschool↗
PubMed1985

[Abnormalities of the neural tube in twins].

We have studied neural tube malformations in twins in order to research into the role of genetic and environmental factors. 12 pairs of twins in which one child had a neural tube defect were studied in Brittany, which is a Celtic country. We found no evidential agreement about the role each factor played. On the other hand there was an excess of twins in the siblings of those with neural tube defects, especially in the siblings of the mothers. There were more dizygotic twin mothers. Analysing the literature has made it possible for us to find a level of agreement of 7.5% for monozygotic twins and 4.6% for dizygotic twins. This last figure corresponds to the recurrence rate found after one case. The aetiological theories are reviewed. Among factors bringing about neural tube defects would seem to be the microenvironment of the uterus and the delay between ovulation and fertilization and implantation of the fertilized egg. Nutrition of the embryo and possible vitamin deficiencies could explain this inter-action between the mother and the fetus. If there is a genetic factor, it is more likely to be maternal than fetal.

Anencephaly↗
PubMed1985

[Neural tube defects (spina bifida and anencephaly) in Brittany].

We report a clinical analysis of 327 cases of Spina Bifida and 102 cases of Anencephaly in Brittany. Maternal age, parity, birth weight are not different from random population. Male rate is 0.40 for Anencephaly and 0.50 for Spina Bifida. The study of pregnancies shows an increased frequency of hydramnios during anencephaly pregnancies (0.34) and high rate of abnormalities during the pregnancy of Spina Bifida (0.34) or Anencephaly (0.86). Four mothers of Spina Bifida were taking valproic acid. Thirty children (0.07) had other malformations.

Abnormalities, Multiple↗
PubMed1985

[Female hemophilia. Apropos of a homozygote woman].

About one homozygote female for haemophilia, authors report circumstances where we can see an haemophilic female: lyonisation, chromosomal abnormalities of X chromosome, and homozygosis. They report the cases of literature.

Adult↗
PubMed1984

Opsismodysplasia: a new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae.

The name opsismodysplasia is proposed for a new chondrodysplasia, which was studied in three patients. Clinically, the condition is recognized at birth on the basis of shortness, short hands, and facial abnormalities with a short nose and a depressed bridge of nose. The most characteristic radiographic signs are: very retarded bone maturation; marked shortness of the bones of the hands and of the feet with concave metaphyses; and thin, lamellar vertebral bodies. The growth cartilage studied in one case showed a wide hypertrophic area containing thick connective tissue septa, irregular provisional calcification, and vascular invasion. Type I collagen was detected in the hypertrophic area by immunohistochemical and microchemical tests. The transmission of opsismodysplasia is probably autosomal recessive.

Abnormalities, Multiple↗
PubMed1984

[Abnormalities of the central nervous system. Results of 3 years of genetic counseling at the University Hospital of Rennes: 192 cases].

The authors present their view of screening for central nervous system malformations in Brittany, having studied 192 case histories of subjects seen in the three years of genetic counselling in Rennes. Ultrasound usually manages to demonstrate anencephaly but all too often it fails to demonstrate spina bifida. Furthermore serum or amniotic fluid alphafetoprotein levels are often poorly interpreted. Microcephaly and encephaloceles occur rarely. The ultrasound diagnosis of the latter is easy whereas it is more difficult to diagnose microcephaly. The authors point out that there are familial forms of hydrocephaly and of holoprosencephaly which are not all that rare and fairly easy to diagnose so long as one remembers this very serious abnormality.

Academic Medical Centers↗
PubMed1984

[Significance of family photographs for genetic counseling in sex-linked heredity].

Authors remember the interest of the old photographs belonging to the families; the authors show how they can help the diagnosis; they can also help to assert the mode of inheritance; in few cases, they can find some female carriers with clinical signs; at last, infrequently, they prove the presence of the disease in a remote generation: so, they prove that the one case is not sporadic but is a familial case; this fact is very important for the genetic counselling of the females of this family. With some cases of the genetic counselling unit of Rennes, authors explain these various situations.

Abnormalities, Multiple↗
PubMed1984

[Toward a reduction of perinatal mortality].

Having studied perinatal mortality in Ille-et-Vilaine from 1972 onwards, the authors have come to realise how out of date the present method of working out perinatal mortality is because it only takes account of late intra-uterine death and early neonatal mortality of infants weighing at least 1 kilogram. The old method does not take notice of the changes that have occurred because of the progress that has taken place in obstetrics and neonatology such as the survival of an increasing number of newborn that weigh less than 1,000 grams or of the fact that the distinction between early and late neonatal death seems to be less and less valid. It does not add up to the total of "lost pregnancies". Furthermore, it does not make it possible to compare our figures with those published in foreign countries. The authors therefore feel that a new definition of perinatal mortality should be made, and this should satisfy the four following requirements: It should include on the one hand all fetuses and newborn that weigh at least 500 grams and on the other hand it should include early and late mortality and even mortality that occurs after the neonatal period. It should take into account the problem of false still-births. It should take into account fetal malformations and abnormalities that have called for therapeutic abortions because they are among the principal causes of perinatal mortality. It should study all the statistics and publications on this subject.

Abortion, Therapeutic↗
PubMed1983

Genetic aspects of artificial insemination by donor (AID). Indications, surveillance and results.

The results provided by the Fédération des Centres d'Etude et de Conservation du Sperme Humain (CECOS) are based on 15,283 requests for AID. They are analysed from the point of view of medical genetics. The genetic indications represent 0.77% of requests for AID and can be separated into four groups: dominant autosomal abnormalities in the man, previous children affected by autosomal recessive conditions, chromosomal abnormalities in the man, and a miscellaneous group. In 2,502 births, a total of 45 malformations was seen, including nine chromosomal abnormalities. The possibility of an early amniocentesis for prenatal diagnosis in every pregnancy after AID is discussed.

Chromosome Aberrations↗