Microcytogenetics 1984.
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Beckwith-Wiedemann Syndrome↗
Biomedical subjects
J de Grouchy
Publications and source records attributed to J de Grouchy.
Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1.
Hypomelanosis of Ito (incontinentia pigmenti achromians), a sacrococcygeal complex dysembryoma, seizures, severe cerebral lesions, mental retardation, chorioretinal atrophy, hemihypotrophy of the body, and skeletal anomalies are reported in a female infant of North African origin. Karyotype analysis revealed mosaicism for a microdeletion of the proximal region of 15q similar to that observed in Willi-Prader syndrome. The possibility of gene assignment of Ito's disease or that it may represent a nonspecific marker for mosaicism are discussed.
Chromosome Banding↗
Chromosome investigations in early life. I. Human oocytes recovered in an IVF programme.
Fifty-five oocytes recovered in an in-vitro fertilization (IVF) programme and remaining unfertilized when observed 42 h after insemination were prepared for chromosomal analysis. Sixteen oocytes displayed no polar body at the time of fixation and were supposed to be in metaphase I. In fact only two of them were in diakinesis, the others containing a diploid set of metaphase II chromosomes indicating that in 89% of the cases oocytes achieved meiosis without any extrusion of the first polar body. Thirty-nine oocytes in metaphase II were analysed. Nine were abnormal showing three D nullosomies, one G disomy, one double disomy for a 3 and a D chromosome, one deletion of the long arm of a G chromosome, one cell with extra chromosomes and/or chromosome breaks, one endoreduplication and one tetraploidy. The overall rate of abnormalities reached 22%. This high rate of chromosome anomalies can be explained by the nature of this population of fertilization failure, the frequently advanced maternal age and the use of superovulation treatments.
Chromosome Aberrations↗
Panel of twenty-five independent man-rodent hybrids for human genetic marker mapping.
To increase the efficiency of the human gene mapping, a panel of 25 man-rodent hybrids was selected out of 200 independent man-rodent hybrids produced in our laboratory since 1969. The hybrid panel was selected in such a fashion as to allow the asignment of a human marker M by respecting the two following complementary criteria: correlation between M and a chromosome and exclusion of the other chromosomes. The panel characteristics allowing the use of these two criteria were presented and discussed. A first series of enzyme markers were analysed to test the validity of the hybrid panel for the human gene mapping. The different possibilities and limits of the hybrid panel were also discussed, especially for the assignment of markers with DNA probes.
Animals↗
Cytogenetic forms of retinoblastoma: their incidence in a survey of 66 patients.
Sixty-six retinoblastoma patients were investigated using high resolution banding techniques, sister chromatid exchange (SCE) studies, and esterase-D phenotype determination and dosage. Seven patients (in six families) were found to be carriers of a rearrangement of band 13q14 due to de novo deletions, apparently balanced de novo translocations, or parental insertions. The possible role of submicroscopic parental insertions is suggested to explain transmission of nonchromosomal forms through unaffected carriers.
Child↗
Beckwith-Wiedemann syndrome. Clinical comparison between patients with and without 11p15 trisomy.
Thirteen previously unreported patients with Beckwith-Wiedemann syndrome are reported. They include two unrelated patients having developed nephroblastoma, and three sibs. High resolution banding techniques failed to show any evidence of trisomy 11p15 in any of these 13 patients. The clinical pictures of Beckwith-Wiedemann syndrome with and without trisomy 11p15 are compared.
Beckwith-Wiedemann Syndrome↗
Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region.
A 45,X/46,X,r(X) mosaicism was observed in an incontinentia pigmenti (Bloch-Sulzberger form) female patient, with mental retardation, short stature, and minor dysmorphisms. This observation is compatible with the regional assignment of the incontinentia pigmenti locus to the juxta-centromeric region of the X, the r(X) being of very small size.
Adult↗
Embryonic testicular regression syndrome and severe mental retardation in sibs.
The embryonic testicular regression syndrome associated with severe mental retardation is reported in three 46,XY sibs each of whom has a 46,XY chromosome complement. A fourth sib, a sister, also is severely retarded mentally; her chromosome complement is 46,XX. The 46,XY individuals, who were raised as females, presented varying degrees of genital ambiguity, indicating that their gonadal activities had been arrested at different times during embryogenesis. No trace of gonadal tissue could be found in either patient. The coincidence of the embryonic testicular regression syndrome and severe mental retardation in the same sibship is discussed.
Adult↗
Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases.
Two patients with trisomy 11p15 and features of Beckwith-Wiedemann syndrome are reported. The first is a female infant with gigantism, macroglossia, abdominal hypotonia with umbilical hernia, moderate mental retardation, malformative uropathy, and atrial septal defect. Trisomy 11p15 was due to de novo duplication. The second patient was a stillborn (32-33 weeks pregnancy) with an abnormal tongue, posterior diaphragmatic eventration, inner organ congestion mainly of the adrenals. Trisomy 11p15 was due to a t(4;11)(q33;p14)pat. The association of trisomy 11p15 and Beckwith-Wiedemann syndrome is discussed with regard to cytogenetic data and the gene content of 11p, notably the genes coding for insulin and predisposition to Wilms tumour.
Beckwith-Wiedemann Syndrome↗
Regional mapping of clotting factors VII and X to 13q34. Expression of factor VII through chromosome 8.
Blood clotting factors were investigated in a patient with trisomy 8 mosaicism, a patient with an r(13), and a patient with distal trisomy 13q. Results are compatible with the assignment of the structural genes of factors VII and X to 13q34 and the existence of a regulatory mechanism associated with chromosome 8 controlling the expression of factor VII alone.
Adult↗
Del11p13/nephroblastoma without aniridia.
A patient is reported with del11p13, low catalase level, nephroblastoma, chordee and cryptorchidism, no evident mental retardation, and with normal irides. This unique observation suggests the following order of loci in 11p13, from centromere to telomere: catalase, Wilms tumor, aniridia. The chromosomal origin of nephroblastoma may be more frequent than estimated on the basis of its association with aniridia.
Acatalasia↗
Conservation of the human COL1A1-TK-GAA synteny and homoeologous assignment in the African green monkey and the baboon (Cercopithecoidae).
The pro alpha 1 (I) collagen structural gene (COL1A1), the acid alpha-glucosidase (GAA), and the thymidine kinase (TK) genes, known to be closely linked in man (HSA) and mapped to HSA17, were found syntenic in two Cercopithecoidae species, the baboon (Papio papio, PPA) and the African green monkey (Cercopithecus aethiops, CAE) and assigned to homoeologous chromosomes, PPA16 and CAE19, respectively. The assignment of COL1A1 was obtained using two human cDNA probes. Hind III restriction sites found in man were present in the two species. The particular CAE individual used in the experiment showed a polymorphism for one DNA fragment.
Animals↗
Low dose rate ionizing radiation induces increased growth capacities of d-deletion retinoblastoma skin fibroblasts.
Skin fibroblasts from normal children and three children with a 13q deletion retinoblastoma (Rb) were exposed to cumulative low doses of gamma rays. The typical response of normal donors was a reduction in the lifespan of irradiated fibroblasts, the precocity of the decline being inversely related to the dose received. In contrast, the lifespan of one Rb cell line (Rb1) was prolonged; irradiated cells with an increased growth potential showed a higher number of cells at confluency and more cells were entering DNA synthesis phase than in non-irradiated cells. Another Rb cell line (Rb2) demonstrated a normal lifespan following irradiation but foci were observed in irradiated cultures. Cytogenetic analysis revealed no selection of abnormal clones in these cell populations. The third Rb line examined (Rb3) responded like a normal cell line. We suggest that irradiated skin fibroblasts derived from some patients with Rb are in certain cases able to express abnormal growth capacities which may be one of the manifestations of the high susceptibility of the individual's stromal cells to carcinogenic agents.
Cell Count↗
Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature.
Three patients (two females, one male) are reported with bilateral aniridia, Wilms' tumor, more or less moderate mental retardation, decreased catalase activity, and del 11p13. These and 34 case reports from the literature are discussed with respect to: sex ratio, maternal age, type of chromosomal imbalance and frequency of associated rearrangements, prevalence of aniridia and other eye disorders, predisposition to tumor development, genitourinary anomalies, growth and mental retardation, and catalase involvement. Possible gene relationship within the complex locus and with neighbouring 11p genes is discussed.
Acatalasia↗
[Trisomy 7. Internal intersexuality (masculine uterus) and severe abnormality of the anterior chamber of the eye].
Full trisomy 7, without evidence of mosaicism, was observed in a newborn male having survived three months. Apart from facial dysmorphism, he had unusual malformations: severe anomalies of the splenomesenteric vascular system, persistence of Müllerian ducts (uterus masculinus), major anomalies of the anterior chamber of eye.
Abnormalities, Multiple↗
[In vitro parthenogenesis in the human species].
During the examination of some 800 oocytes prior to in vitro fertilization, twelve exhibited evidence of parthogenetic activation. Four of these twelve underwent cleavage, the cleavage of one being normal. In vitro parthenogenesis is compared with two forms of parthenogenesis observed in vivo, namely ovarian teratomas and hydatidiforms moles.
Female↗
Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin).
Patient no 1, a boy, was carrier of a de novo del (14) (pter- greater than q23::q32- greater than qter). Patient no 2, a boy, had a de novo del (14) (pter- greater than q23::q24.2- greater than qter). Common dysmorphisms included bushy eyebrows, frontal bossing, and micrognathia. Patient no 2 had features of Holt-Oram syndrome, i.e. congenital heart defect and severe ulnar defect. Patient no 1 had congenital heart defect but no typical osseous disorders. The association of Holt-Oram syndrome and del 14q24.1 is stressed. Patient no 1 was heterozygous for Pl (alpha-1-antitrypsin) phenotypes. The gene locus could thus be excluded from q24 and q31, and tentatively assigned to q32.1.
Abnormalities, Multiple↗
New gene assignments in the rabbit (Oryctolagus cuniculus). Comparison with other species.
Nineteen cell hybrids were obtained by fusing rabbit (Oryctolagus cuniculus, OCU) fibroblasts and a Chinese hamster cell line HGPRT-. Eleven enzymatic markers were previously investigated (Soulié and Grouchy 1982); seven of these could be assigned (LDHA, LDHB, TPI, PEPB, NP, ITP, and G6PD). Two assignments were uncertain (MDH2 and GUK). Two markers could not be assigned (MDH1 and PGD). Seven further markers were investigated and are the subject of this report. Six could be assigned: GALT to chromosome OCU1, GAPD to OCU4, GPX and ACY to OCU9, PGM1 to OCU13, and GSR to OCU19. One could not be assigned (GPI). MDH2 and GUK were previously considered uncertain. Now MDH2 was found impossible to assign and GUK was mapped on OCU15. These assignments were compared with those known in man, Cebus capucinus, Microcebus murinus, cat, and mouse. It was impossible to assign any enzymatic marker belonging to the ten linkage groups known in the rabbit. The esterase locus could not be investigated since the rabbit enzyme migrates in the same position as the hamster enzyme.
Animals↗