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J de Grouchy

Publications and source records attributed to J de Grouchy.

At least 37 records · Page 2Linked to original sources
PubMed1988

Chromosome analysis of human oocytes and embryos: does delayed fertilization increase chromosome imbalance?

Thirty per cent of a sample of 120 unfertilized human oocytes carried chromosome abnormalities highly correlated with maternal age (38% in patients greater than 35, as compared with 24% in younger patients). Fertilized eggs, when observed 17 h after insemination, showed in 1.6% a single pronucleus suggesting parthenogenetic activation. In 92% of the cases two pronuclei were observed and the rate of chromosome anomalies depended on the morphological aspect of the embryos. Triploidy was also encountered in 6.4% of the eggs leading to an overall rate of chromosome aberrations reaching 29.2%. Delayed fertilization drastically increased the rate of chromosome anomalies (87%) as well as the rate of mosaicism: 30% versus 10.6% in timely fertilized eggs. The high rate of chromosome disorders in early life after in-vitro fertilization (IVF) raises the ethical question of the opportunity of carrying out a genetic control of normality in human embryos at the preimplantation stage.

Chromosome Aberrations↗
PubMed1988

Are clinical and biological IVF parameters correlated with chromosomal disorders in early life: a multicentric study.

A multicentric study was carried out to analyse in a large series: (i) the chromosomal status of unfertilized oocytes, (ii) errors at fertilization and (iii) the chromosomal complement of cleaved embryos. Parameters such as type of sterility, maternal age, stimulation treatment, doses of gonadotrophins administered and oocyte preincubation time before insemination were studied in relation to the incidence of chromosome abnormalities. Twenty-six per cent of the unfertilized oocytes and 29.2% of the embryos had chromosome anomalies. Maternal age significantly increased the rate of aneuploidy in oocytes: 38% in patients over 35 years (versus 24% in younger patients). Fertilization-related abnormalities were significant, i.e. 1.6% parthenogenesis and 6.4% polyploidy. Unexplained infertility was correlated with an increase in the rate of parthenogenesis (4.2%) when compared with tubal infertility (1.2%). Triploidy was found to be correlated with three parameters. A lower rate of triploidy was observed in the group of couples referred because of male sterility (1.9% versus 6.3% for tubal sterility), in HMG-treated patients (2.4% versus 7% with analogues of LHRH/HMG) and with a short 2-h preincubation time before insemination (3% versus 7.2% for greater than 2 h). A general model for natural selection against embryos carrying a chromosome imbalance was proposed.

Chromosome Aberrations↗
PubMed1988

6q1 monosomy: a distinctive syndrome.

A female infant with a de novo del 6q14q16.2 and five other patients with del 6q1 reported in the literature allow the delineation of a characteristic syndrome, the main features of which are: severe mental retardation, a round face with full cheeks, upslanting palpebral fissures, a short neck, umbilical hernia, malpositioned feet with syndactyly II-III, and typical dermatoglyphics with an excess of whorls and clinodactyly of the Vth finger.

Abnormalities, Multiple↗
PubMed1988

Duplication of HRAS1, INS, and IGF2 is not a common event in Beckwith-Wiedemann syndrome.

A few cases of Beckwith-Wiedemann syndrome (BWS) have in common a duplication of 11p15. Among the genes located in 11p15, c-Ha-ras 1 (HRAS1), insulin (INS), and insulin-like growth factor II (IGF2) may account for the clinical features and the increased risk for malignancy. Using eight 11p15 markers including HRAS1, INS and IGF2 we have studied eight sporadic and hereditary cases of BWS whether or not associated with a nephroblastoma. By gene dosage determination and family studies, we have shown the following: the eight patients examined had an apparent diploid representation of all of the eight markers studied, thus indicating that a microduplication of these markers or of the region characterized by these markers is not a common event in BWS; in a family with three affected sibs the genes for HRAS1 and INS/IGF2 did not cosegregate with BWS and therefore may not participate in the pathogenic processes here observed.

Beckwith-Wiedemann Syndrome↗
PubMed1988

Twofold CuZnSOD activity suggesting homozygous submicroscopic duplication of chromosome 21 in the orangutan.

A twofold CuZnSOD activity was observed in an orangutan as compared to man and a chimpanzee. This suggests that a submicroscopic duplication of chromosome 21 (similar to those demonstrated in patients with the trisomy 21 phenotype but with a normal karyotype) has occurred in the homozygous state during evolution of the orangutan phylum. Such duplications could be important evolutionary mechanisms, together with visible chromosome rearrangements and classical gene mutations.

Animals↗
PubMed1988

Dermatoglyphic patterns in senile dementia of Alzheimer's type.

Several reports suggest a genetic relationship between senile dementia of Alzheimer type (SDAT) and Down's syndrome. We have analyzed fingerprints and palmar patterns in an elderly female population comprising a group of 34 patients with probable SDAT, a group of 20 patients with other dementias, and a group of 20 non-demented controls. A bilateral Sydney line was found to be significantly more frequent in the SDAT group than in the two other groups (p less than 0.01, sensitivity 30%, specificity 95%, positive predictive value 91%, negative predictive value 61%). A bilateral Sydney line was as frequent in the SDAT group as in Down's syndrome. The limit value of the index of transversality equal or superior to 31, which is considered as a feature of Down's syndrome, was significantly more frequent in the SDAT group than in the two other groups (right hand p less than 0.05, left hand p less than 0.02). A bilateral discriminant value of this index was also significantly more frequent in the SDAT group than in the two other groups (p less than 0.02), as was an index of transversality higher than 31 on at least one hand (p less than 0.01). In contrast with other reports, we haven't found significantly different frequencies of digital ulnar loops and true hypothenar patterns between the SDAT group and the two others.

Aged↗
PubMed1987

Beta amyloid gene duplication in Alzheimer's disease and karyotypically normal Down syndrome.

With the recently cloned complementary DNA probe, lambda Am4 for the chromosome 21 gene encoding brain amyloid polypeptide (beta amyloid protein) of Alzheimer's disease, leukocyte DNA from three patients with sporadic Alzheimer's disease and two patients with karyotypically normal Down syndrome was found to contain three copies of this gene. Because a small region of chromosome 21 containing the ets-2 gene is duplicated in patients with Alzheimer's disease, as well as in karyotypically normal Down syndrome, duplication of a subsection of the critical segment of chromosome 21 that is duplicated in Down syndrome may be the genetic defect in Alzheimer's disease.

Adult↗
PubMed1987

Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism.

Molecular investigations were done in a woman with a de novo balanced t(21q21q) discovered because of the birth of a trisomic 21 baby. Polymorphisms detected with probe ets-2 after Msp I digestion showed that both chromosomes 21 involved in the rearrangement were of maternal origin. The most likely hypothesis is that of a disomic 21 oocyte fertilized by a nullisomic 21 sperm.

Chromosomes, Human, Pair 21↗
PubMed1987

Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome.

Drash syndrome associates a nephropathy characterized by a diffuse mesangial sclerosis of early onset, Wilms tumor, and male pseudohermaphroditism (MPH). A patient with Drash syndrome is reported with the following: karyotype 46,XY, external genitalia near normal female, mixed gonadal dysgenesis, severe androgen receptor deficiency demonstrated for the first time in this syndrome. The possibility of a common genetic denominator with the del 11p13 WAGR complex is suggested. MPH/nephroblastoma association is common. Androgen receptor deficiency has been observed in one case of each syndrome, respectively.

Disorders of Sex Development↗
PubMed1987

Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome).

A patient with the phenotype of trisomy 21 (Down syndrome) was found to have a normal karyotype in blood lymphocytes and fibroblasts. Assessment of the chromosome 21 markers SOD1, CBS, ETS2, D21S11, and BCEI showed partial trisomy by duplication of a chromosome segment carrying the SOD1, CBS, and ETS2 loci and flanked by the BCEI and D21S11 loci, which are not duplicated. This submicroscopic duplication at the interface of 21q21 and 21q22.1 reduces to about 2000-3000 kb the critical segment the trisomy of which is responsible for the phenotype of trisomy 21.

Adult↗
PubMed1987

Chromosome investigations in early life. II. Human preimplantation embryos.

Cytogenetic analysis of 68 human embryos at the 2- to 8-cell stage was performed according to Tarkowski's technique. Sixteen per cent of diploid embryos showed abnormalities, essentially diploid/haploid or triploid/haploid mosaicism. Considering the aspect of the embryos, 11% of healthy looking and 19% of fragmented embryos were chromosomally abnormal without, however, any statistical significance in this small series. Only 46.7% of the tripronucleate fertilized eggs showed a triploid chromosome complement. In 20% of the cases, however, diploid metaphases were found, and in the last 30% a triploid/diploid mosaicism. One per cent of the oocytes displayed a single pronucleus, and the resulting embryos contained haploid sets of chromosomes suggesting a parthogenetic activation. The overall rate of chromosome abnormalities, including 16% of abnormal diploid eggs, 6% of polyploid and 1% of haploid embryos, thus reaches 23% in this series.

Aneuploidy↗
PubMed1987

From oocyte to embryo: a model, deduced from in vitro fertilization, for natural selection against chromosome abnormalities.

A cytogenetical analysis was performed on 151 unfertilized oocytes, 22 fertilized eggs at the pronuclear stage, and 108 cleaved embryos obtained in the course of in vitro fertilization (IVF). Thirty-two per cent of unfertilized oocytes were abnormal, carrying nullisomies or disomies, mainly of D and G chromosomes, and a structural anomaly (Gq-) in one case. Fertilized eggs showed frequent asynchronism in the development of pronuclei and only 2 out of 8 karyotyped pronuclei were normal. Cleaved embryos were classified according to the number of pronuclei observed 17 hours after insemination. One per cent displayed a single pronucleus, and haploid chromosome complements were found in the corresponding cleaved embryos which were considered to be parthenotes. The rate of chromosome abnormalities of diploid eggs depended on their morphological aspect. Healthy cleaved embryos carried 12.5% of anomalies while this rate reached 37% in fragmented embryos (p less than 0.05). Lastly, 6% of fertilized eggs displayed three pronuclei or more. Only 41% of the corresponding embryos were triploid. Diploidy or diploidtriploid mosaicism were often encountered. This leads to a 21% rate of abnormalities in the preimplantation embryos. Parental karyotyping and HLA typing were carried out in a series of eight couples with in vitro idiopathic infertility or recurrent embryo degeneration in vitro. No abnormality was noted. According to these results, a model of natural selection of normal conceptuses is proposed.

Aneuploidy↗