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Biomedical subjects

Y Gillerot

Publications and source records attributed to Y Gillerot.

At least 73 records · Page 4Linked to original sources
PubMed1987

Prenatal diagnosis of a dup(3p) with holoprosencephaly.

The prenatal diagnosis of dup(3p) was made in a female conceptus, the father being a known carrier of a balanced translocation t(3;10)(p21;q26). Interruption of pregnancy at 19 weeks showed a fetus with a holoprosencephaly field defect. Two other cases of dup(3p) have been observed in the same family. The malformations were different in each of the 3 patients, suggesting a considerable degree of variability of dup(3p).

Abnormalities, Multiple↗
PubMed1986

[Frequency and value of autopsy in perinatal death].

In the province of Hainaut (Belgium), a study was undertaken in order to assess a pediatric pathology department, organized at the regional level. The study concerned 182 perinatal deaths, occurring among the 16,071 births in 9 maternity hospitals, in 1982 and 1983. The frequency of autopsies was 51%, both for stillbirths and for early neonatal deaths. It was 76% in the group of deaths related to congenital malformations and 48% in the group of deaths of unknown cause. The lack of an autopsy was explained in 20% of cases by the parents' refusal, in 8% of cases by the state of maceration of the fetus and by the obviousness of the diagnosis in 24%. In 46% of cases, no etiology was found and it appeared that the degree of physician interest was an important factor in the frequency of autopsies. Dissection alone revealed the cause of death in 13 of the 94 autopsies. In children presenting with congenital malformations, the performance of a complete pathologic study almost always led to genetic counseling for the parents. This counseling was almost never given when autopsy was not performed.

Autopsy↗
PubMed1985

[Frequency of lethal congenital malformations. Experience supported by 600 autopsies].

Data analysis of 600 neonatal necropsies performed in our Center from 1978 to 1984, has shown that in 200 cases one or more lethal malformations were observed: the most frequent concerned the central nervous system (33 cases), the urinary tract system (28 cases) and the cardiovascular system (26 cases). A genetic determinism was considered in 127 cases (63,5%). Usually a genetic counselling follows neonatal death in our Center: necropsy findings are then most useful: the authors advocate the interest of a close collaboration between pathologists and geneticists.

Autopsy↗
PubMed1984

[Should we expand the indications for analysis of fetal chromosomes?].

The usual indications of amniocentesis for prenatal diagnosis are briefly reviewed. Some situations which are note included in these usual indications are discussed: mothers of 34 years, young aunts of a trisomic child, patients with a previous aborted conceptus diagnosed as trisomic by histological examination of the placenta or tissue culture. It is anticipated that, if accepted, these "unusual" criteria would not overload a given laboratory with an excess of analysis, and would certainly relief anxiety of motivated couples.

Adult↗
PubMed1984

[Pulmonary hypoplasia. Apropos of a case in twins].

The authors report an unusual case of major lung hypoplasia in both of twins without any other associated malformations. This case has given an opportunity to make a hypothesis on the aetiology and pathogenesis in order to try to explain the pathology and better to appreciate fetal respiratory function.

Adult↗
PubMed1984

[Fatal urinary tract malformations: their place and incidence in a series of 450 neonatal autopsies].

In our serie of 450 neonatal necropsies, 26 cases presenting with urinary tract anomalies have been observed (5,7% of the total and 15,5% in those with malformations). From an etiological point of view, two groups could be distinguished: one (17 cases) with severe oligoamnios sequence and the second (9 cases) with hereditary malformations. In this second heterogeneous group thourough pathological examination seems to be the essential for diagnosis and efficient genetic counselling.

Amniotic Fluid↗
PubMed1983

Lethal perinatal type II osteogenesis imperfecta in a family with a dominantly inherited type I.

The genetic heterogeneity and the difficulty of accurate genetic counseling in some cases of osteogenesis imperfecta (OI) is shown by the present report. All signs characteristic of OI type II were observed in a newborn infant who died immediately after delivery: curved and deformed limbs, multiple bone fractures, enlarged and soft skull. An autosomal recessive mode is usually admitted for OI type II. However, several cases of OI tarda levis (autosomal dominant) are noticed in the maternal family. The possibility of a relationship between these two types of osteogenesis imperfecta in the same family, which might be important for genetic counselling, is discussed.

Genetic Counseling↗
PubMed1983

[The placenta in trisomy in the last trimester of pregnancy].

18 cases of trisomies 13, 18, or 21 were diagnosed either by examining the caryotype or on clinical criteria. When the placenta was examined in 60% of cases there was a marked retardation of villous maturation with frequent persistence of embryonic forms of villi. The authors suggest that the failure of the villi to mature was often a reflection of pathology in the oocyte which started to show itself at the beginning of the pregnancy.

Chromosomes, Human, 13-15↗
PubMed1982

[Neonatal autopsy and genetic counseling. 350 cases].

Congenital anomalies or malformations have now become the principal cause of neonatal deaths, as confirmed by the present study of 350 consecutive autopsies studied from 1977 to 1981. The overall incidence of congenital malformations for the whole period considered was of 36.8%. However, during this short four-year lapse of time, a steady increase from 26.8% in 1977 to 48.1% in 1981 could be noticed. This increase is concomitant to the decrease of the "classical" causes of neonatal deaths, namely prematurity sequellae and intrapartal death. Indeed, many different entities have been identified; it seems interesting to point out, however, the relatively great number of autosomal recessive diseases found in the present series. For a full genetic profit, neonatal autopsy should be complete and systematically followed by genetic counseling.

Abnormalities, Multiple↗
PubMed1982

[Meiotic chromosomes and masculine infertility: evaluation of results].

Meiotic chromosome studies in male infertility are controversial: some authors find them useful, others do not. Indeed, interpretation of data already published is still difficult, for some main reasons discussed in the text: the small volume of testicular tissue available for observation, the lack of uniformity in the selection of patients from series to series, the presentation of the results. Nevertheless, critical analysis of the literature leads to the conclusion that in 10% of patients whom underwent testicular biopsy, meiotic chromosome anomalies can easily explain their infertility. Our personal series of 450 cases confirms this order of magnitude. Therefore, we think that meiotic chromosome analysis is certainly useful in the evaluation of male infertility, both for diagnosis and prognosis.

Chromosome Aberrations↗
PubMed1980

Down's syndrome in Wallonia (South Belgium), 1971-1978: cytogenetics and incidence.

During the 8 year-period 1971-1978 inclusive, 268 newborn with Down's syndrome (DS) were ascertained in Wallonia (South Belgium). The chromosomes of all patients were analyzed. A standard trisomy 21 was observed in 259 cases (96.6%) and translocations in seven (2.6%). One mosaic (0.4%) and one case with a 47,XX,+21,5 p-karyotype (0.4%) were also found. The overall incidence at birth for the 8 year-period was of 0.123%. However, the comparison of the 2 four-year periods 1971-1974 and 1975-1978 showed an increased incidence in mothers below 35 during the second period, reaching a statistical significant level in Charleroi, and industrial and densely populated area of the region (Fisher's exact test: P = 0.016 less than 0.025). Young women have now become the principal source of DS patients in Wallonia. This change from the previous pattern happened abruptly in 1975, and strongly suggests that one or more persisting factors relating to meiotic non-disjunction of chromosome 21 are operating in this region since 1974, and affecting DS births from 1975 onwards.

Adolescent↗
PubMed1980

[46,XX,r(18), + mar karyotype in the niece of a leukemic patient with trisomy 21 and cri du chat chromosome (author's transl)].

The present observation concerns a female patient with a 47,XX, r(18), + mar karyotype. The size of the ring varies from mitosis to mitosis; generally it is very small. The presence of a small marker ("minute") may explain some phenotypic differences not usually observed in the "r(18) syndrome". This patient is the niece of a trisomic 21, who showed complex chromosome anomalies during the course of an acute leukemia from which he died.

Child, Preschool↗
PubMedDate not supplied

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings.

UNLABELLED: We present the clinical, pathological, biochemical, and molecular results on an infant girl with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and data on her deceased elder brother for whom this condition was retrospectively diagnosed. Clinical signs were liver enlargement and elevated liver enzymes, failure to thrive, and neurological disease (coma, seizures) triggered by an infectious stress. In the second child hepatic failure and status epilepticus developed during the onset of a rotavirus gastroenteritis. A barbituric coma was induced, but hypotonia and lack of eye pursuit persisted after suppression of antiepileptic drugs. She ultimately died of heart failure. Unlike previously reported cases, both of these patients had early-onset cirrhosis, and severe neurological disease was observed in the second child. CONCLUSION: Liver cirrhosis and brain damage may be underestimated in cases of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and may occur early in life.

3-Hydroxyacyl CoA Dehydrogenases↗