References of "Koulischer, Lucien"
     in
Bookmark and Share    
Full Text
Peer Reviewed
See detailA low rate of trisomy 21 in twin-pregnancies: A cytogenetics retrospective study of 278 cases
Jamar, Mauricette ULg; Lemarchal, C.; Koulischer, Lucien ULg et al

in Genetic Counseling (2003), 14(4), 395-400

Detailed reference viewed: 25 (4 ULg)
Peer Reviewed
See detailMajor Decrease in the Incidence of Trisomy 21 at Birth in South Belgium: Mass Impact of Triple Test?
Verloes, Alain ULg; Gillerot, Y.; Van Maldergem, Lionel ULg et al

in European Journal of Human Genetics (2001), 9(1), 1-4

In South Belgium (Wallonia), the 'triple test' was introduced in 1990-1991, and is nowadays a widely accepted screening method for assessment of trisomy 21 risk in pregnancy. The 'triple test' is not ... [more ▼]

In South Belgium (Wallonia), the 'triple test' was introduced in 1990-1991, and is nowadays a widely accepted screening method for assessment of trisomy 21 risk in pregnancy. The 'triple test' is not regulated and can be freely performed by any biomedical lab, making epidemiological data unavailable. By contrast, cytogenetic investigations are limited to a few genetic centres, and accurate statistics can be easily built from their files. During the period 1984-1989, a total of 244 trisomy 21 (1/876 pregnancies) were diagnosed in the Genetic Centres of Liege and Loverval, 42 (17%) of them prenatally. During the period 1993-1998, 294 trisomy 21 (1/704 pregnancies) were observed, 165 (56%) of which prenatally, and more than 90% of affected pregnancies were terminated. Even after correction for late foetal loss of trisomic foetuses, the difference is highly significant, and corresponds to a theoretical shift in the incidence of trisomy 21 at birth from 1/794 to 1/1606. As no remarkable progress occurred in other non-invasive prenatal screening procedures or general health care policies in Belgium, the most reasonable explanation is the use on a large scale of triple test by pregnant women, and the election of termination for most affected pregnancies. [less ▲]

Detailed reference viewed: 19 (3 ULg)
Peer Reviewed
See detailInv(12)(Q15q24): A Nonrandom Change Associated with Myelodysplasia?
Scantamburlo, Gabrielle ULg; Lampertz, serge; Jamar, Michelle ULg et al

in Cancer Genetics & Cytogenetics (2000), 121(2), 206-7

A patient with refractory anemia and a paracentric inversion of chromosome 12, inv(12)(q15q24), is described. This is the second reported case with this chromosome anomaly, suggesting that this ... [more ▼]

A patient with refractory anemia and a paracentric inversion of chromosome 12, inv(12)(q15q24), is described. This is the second reported case with this chromosome anomaly, suggesting that this rearrangement is a rare but nonrandom change associated with myelodysplastic syndromes. [less ▲]

Detailed reference viewed: 18 (0 ULg)
Peer Reviewed
See detailLoss of the Y Chromosome in Bone Marrow Cells: Results on 1907 Consecutive Cases of Leukaemia and Preleukaemia
Herens, Christian ULg; Brasseur, Edmond ULg; Jamar, Michelle ULg et al

in Clinical & Laboratory Haematology (1999), 21(1), 17-20

Loss of the Y chromosome with a resulting 45, X0 karyotype is observed in normal bone marrow cells of elderly males but also in haematological malignancies. Whether Y loss in neoplastic cells is related ... [more ▼]

Loss of the Y chromosome with a resulting 45, X0 karyotype is observed in normal bone marrow cells of elderly males but also in haematological malignancies. Whether Y loss in neoplastic cells is related to the process seen in normal ageing or is part of the carcinogenic process is unknown. The present study concerns the cytogenetic data from 1907 consecutive leukaemic or preleukaemic male patients with special regard to the presence or absence of the Y chromosome. Sixty-five patients (3.4%) had a 45, X-Y clone in their bone marrow (BM) cells. Loss of Y was rare below the age of 50 but increased in older patients, reaching 25% of the men over 80. Sixteen patients (0.08%) had more than 90% X0 cells in their BM. A correlation between Y loss and leukaemia could be established in seven cases, three of which were acute myeloid leukaemia M2 subtype where -Y is known to be a secondary event. In three other cases, -Y was part of a complex karyotype. Only one patient exhibited a 45, X0 karyotype, with no other rearrangement, that could be positively correlated with the neoplastic process. [less ▲]

Detailed reference viewed: 16 (0 ULg)
Full Text
Peer Reviewed
See detailTranslocation (2;3)(p21;q26) as the sole anomaly in a case of primary myelofibrosis.
Herens, Christian ULg; Hermanne, Jean-Philippe; Tassin, Françoise ULg et al

in Cancer Genetics & Cytogenetics (1999), 110(1), 62-4

Translocation t(2p;3q) is a rare but recurrent finding in myeloid disorders. We present the first case of primary myelofibrosis with t(2;3)(p21;q26) as the sole chromosomal anomaly. The comparison with ... [more ▼]

Translocation t(2p;3q) is a rare but recurrent finding in myeloid disorders. We present the first case of primary myelofibrosis with t(2;3)(p21;q26) as the sole chromosomal anomaly. The comparison with the 11 other previously published myeloid-associated t(2p;3q) cases confirms that this nonrandom translocation involves a pluripotent stem cell and is associated with a poor prognosis. [less ▲]

Detailed reference viewed: 58 (12 ULg)
Peer Reviewed
See detailPrivate Multiple Congenital Anomaly Syndromes May Result from Unbalanced Subtle Translocations: T(2q;4p) Explains the Lambotte Syndrome
Herens, Christian ULg; Jamar, Mauricette ULg; Alvarez Gonzalez, Maria-Luz ULg et al

in American Journal of Medical Genetics (1997), 73(2), 127-31

In 1990, Lambotte syndrome was reported as an apparently autosomal recessive multiple congenital anomaly/mental retardation (MCA/MR) syndrome observed in 4 of 12 sibs from a probably consanguineous mating ... [more ▼]

In 1990, Lambotte syndrome was reported as an apparently autosomal recessive multiple congenital anomaly/mental retardation (MCA/MR) syndrome observed in 4 of 12 sibs from a probably consanguineous mating [Verloes et al., Am J Med Genet 1990; 37:119-123]. Major manifestations included intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, hypertelorism, beaked nose, and extremely severe neurologic impairment, with holoprosencephaly in one instance. After the observation of a further affected child born of one unaffected sister, in situ hybridization analysis and chromosome painting techniques demonstrated a subtle t(2;4)(q37.1; p16.2) translocation in the mother, suggesting a combination of 2q/4p trisomy/monosomy in all of the affected children of the family. Many private sporadic or recurrent MCA/MR syndromes maybe due to similar symmetric translocations, undetectable by conventional banding techniques. [less ▲]

Detailed reference viewed: 18 (1 ULg)
Peer Reviewed
See detailGenetic Risk in Natural and Medically Assisted Procreation
Koulischer, Lucien ULg; Verloes, Alain ULg; Lesenfants, S. et al

in Early Pregnancy (1997), 3(3), 164-71

Current in vitro fertilization techniques (IVF) including intracytoplasmic sperm injection (ICSI), microepididymal sperm aspiration (MESA) or testicular sperm extraction (TESE) clearly prevent any ... [more ▼]

Current in vitro fertilization techniques (IVF) including intracytoplasmic sperm injection (ICSI), microepididymal sperm aspiration (MESA) or testicular sperm extraction (TESE) clearly prevent any spontaneous choice of ova or spermatozoa. According to the widely admitted concept of gamete selection, pregnancies following IVF, when compared to natural fertilization, could therefore present a higher risk of genetic anomalies. However, no increased fetal or newborn abnormalities are noticed with IVF, except perhaps for sex chromosome aneuploidies. Data from the literature support the view that the uterus is, indeed, the organ where selection mechanisms occur (when they do so), as suggested by Carr in 1971. This selection concerns mainly autosome imbalances; unbalanced conceptuses are aborted. Sex chromosome aneuploidies, apparently, are less prone to natural abortion, but their higher rate of occurrence, as reported in a few series of studies, does not seem to be associated with the IVF procedures. [less ▲]

Detailed reference viewed: 19 (0 ULg)
Full Text
Peer Reviewed
See detailMicrocephaly, muscular build, rhizomelia, and cataracts: Description of a possible recessive syndrome and some comments on the use of electronic databases in syndromology
Verloes, Alain ULg; Lesenfants, S.; Misson, Jean-Paul ULg et al

in American Journal of Medical Genetics (1997), 68(4), 455-60461

We report on a 7-year-old boy born of consanguineous parents with severe microcephaly (-5 SD) but borderline intelligence, juvenile cataract, muscular build, rhizomelic shortness of limbs predominantly of ... [more ▼]

We report on a 7-year-old boy born of consanguineous parents with severe microcephaly (-5 SD) but borderline intelligence, juvenile cataract, muscular build, rhizomelic shortness of limbs predominantly of femora, advanced bone age, and micropenis. This combination of signs appears unique and may represent an undescribed, possibly autosomal recessive MCA syndrome. The use of LDDB and POSSUM in the workup of such "new syndromes" is reviewed. Three search strategies are discussed: single rare sign browsing, best combinatory fit using an array of key words, and combined rare signs scan. Pitfalls in the use of such databases and the some problems raised by inconsistent/ incomplete encoding in those two popular, highly useful syndromology retrieval systems are discussed. [less ▲]

Detailed reference viewed: 13 (1 ULg)
Full Text
Peer Reviewed
See detailCytogenetic study of bovine oocytes matured in vitro
Ectors, Fabien ULg; Koulischer, Lucien ULg; Jamar, M. et al

in Theriogenology (1995), 44(3), 445-450

Described in the present paper is a cytogenetic study of bovine oocytes matured in vitro. The cumulus-oocyte complexes (COC), punctured from ovaries recovered in a local slaughterhouse, were classified ... [more ▼]

Described in the present paper is a cytogenetic study of bovine oocytes matured in vitro. The cumulus-oocyte complexes (COC), punctured from ovaries recovered in a local slaughterhouse, were classified into 3 groups according to follicular diameter 1 to 4mm, 5 to 8mm and 9 to 13 mm. Metaphases available for observation were classified as metaphase I, haploid and diploid metaphase II. High levels of haploid metaphases II (90.6, 86.9 and 94.4 %) among the 3 groups of follicular sizes indicated successful meiotic resumption during in vitro maturation and suggested that cytoplasmic maturation may be responsible for low developmental rate after IVM, IVF and in vitro development (IVD). [less ▲]

Detailed reference viewed: 27 (2 ULg)
Peer Reviewed
See detailNuclear Lesions During Rat Hepatocarcinogenesis. I. Measuring the Sister-Chromatid Exchanges During Initiation, Promotion and Progression of Rat Hepatocarcinogenesis Induced with Diethylnitrosamine
Herens, Christian ULg; Jacquemart, M.; Koulischer, Lucien ULg et al

in Mutation Research : Fundamental & Molecular Mechanisms of Mutagenesis (1995), 329(2), 153-9

Cytogenetic endpoints such as sister-chromatid exchanges (SCEs), chromosomal aberrations and micronuclei (MNs) have been widely used as indicators of genetic damage. However, no systematic attempts have ... [more ▼]

Cytogenetic endpoints such as sister-chromatid exchanges (SCEs), chromosomal aberrations and micronuclei (MNs) have been widely used as indicators of genetic damage. However, no systematic attempts have been made to correlate the levels of these cytogenetic endpoints with the different steps of carcinogenesis. In the present report, the induction, accumulation and persistence of SCEs and high frequency cells (HFCs) were measured in liver cells during the initiation, promotion and progression steps of rat hepatocarcinogenesis induced by diethylnitrosamine (DEN). The results indicate that lesions leading to SCEs accumulate during initiation only. When DEN administration is longer than the duration of this first step, SCE values stabilize. After stopping the carcinogenic treatment, the SCE levels decrease to control values whether or not promotion and progression occur. [less ▲]

Detailed reference viewed: 14 (4 ULg)
Peer Reviewed
See detailNuclear Lesions During Rat Hepatocarcinogenesis. II. Measuring the Micronuclei During Initiation, Promotion and Progression of Rat Hepatocarcinogenesis Induced with Diethylnitrosamine
Herens, Christian ULg; Massart, Sandrina ULg; Bouzahzah, B. et al

in Mutation Research : Fundamental & Molecular Mechanisms of Mutagenesis (1995), 329(2), 161-71

We reported in our companion paper the strong correlation between elevated sister-chromatid exchange (SCE) frequencies and the initiation step of rat hepatocarcinogenesis. We have also shown that SCEs ... [more ▼]

We reported in our companion paper the strong correlation between elevated sister-chromatid exchange (SCE) frequencies and the initiation step of rat hepatocarcinogenesis. We have also shown that SCEs return to normal values during the promotion and the progression stages. In the present study, we evaluated the clastogenic activity of diethylnitrosamine (DEN) during initiation, promotion and progression of rat hepatocarcinogenesis. We measured, at various times after DEN administration, the number of micronuclei (MN) produced by the mitotic response to partial hepatectomy. The results established that the DEN treatment induces a great number of preclastogenic lesions. In subcarcinogenic conditions (initiation alone), the number of MN expressed after partial hepatectomy remains high regardless of the time interval between the end of the DEN treatment and the operation. In this condition, the preclastogenic lesions persist for up to 1 year after the DEN administration is discontinued. Conversely, in carcinogenic conditions (initiation + promotion + progression), the number of MN expressed after partial hepatectomy decreases during the promotion and progression stages. These observations indicate that promotion and progression but not initiation are associated with the expression of persistent preclastogenic lesions, resulting in the production of chromosomally abnormal hepatocytes. [less ▲]

Detailed reference viewed: 6 (2 ULg)
Peer Reviewed
See detailA Prenatal Trisomy 21 Screening Program Using Alpha-Fetoprotein, Human Chorionic Gonadotropin, and Free Estriol Assays on Maternal Dried Blood
Verloes, Alain ULg; Schoos, Roland ULg; Herens, Christian ULg et al

in American Journal of Obstetrics and Gynecology (1995), 172(1, Pt 1), 167-74

OBJECTIVE: The feasibility of large-scale Down syndrome maternal screening with dried blood samples and nonradioactive methods was examined. STUDY DESIGN: A prospective observation study was performed on ... [more ▼]

OBJECTIVE: The feasibility of large-scale Down syndrome maternal screening with dried blood samples and nonradioactive methods was examined. STUDY DESIGN: A prospective observation study was performed on a nonselected population of 11,241 pregnant women sampled between January 1991 and September 1992, between 14 and 24 weeks' gestation (ultrasonographic scanning available for 91.6%), through a multicenter collaborative network. Enzyme-linked immunosorbent assays for alpha-fetoprotein, human chorionic gonadotropin, and free estriol were performed on dried blood samples. Risk determination was made with an in-house software implementing the multivariate gaussian log likelihood method. RESULTS: A total of 10,450 samples were eligible for the study. Mean age at term was 27.9 years. A total of 6.84% of the patients were > or = 35 years old with a prior risk of trisomy 21 > 1:350. The general positive rate of our sample was 8.15%. After calculation 31.7% with prior risk > 1:350 were still in the high-risk group; 6.36% of the low-risk group were found to be at high risk for Down syndrome. Fifteen trisomic pregnancies were observed, of which 11 had a calculated risk higher than the selected cutoff value (1:350). The overall detection rate was 73%, specificity was 92%, and positive predictive power was 1.2%. CONCLUSION: Our pilot study has shown performances within the range of conventional serum screening programs. Dried blood assays are a handy alternative to serum assays. Blot paper cards represent a simple method of sampling, well fitted for large population screening. Combined with nonradioactive methods, this method appears to be both low cost and effective. The current work apparently is the first large-scale Down screening program performed with dried blood. [less ▲]

Detailed reference viewed: 10 (1 ULg)
Full Text
Peer Reviewed
See detailAneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees.
VERLOES, Alain ULg; SAKALIHASAN, Natzi ULg; Koulischer, Lucien ULg et al

in Journal of Vascular Surgery (1995), 21(4), 646-55

PURPOSE: Familial clustering of abdominal aortic aneurysm was first noticed in 1977. METHODS: Through questionnaire and phone inquiry, familial data on 324 probands with abdominal aortic aneurysms allowed ... [more ▼]

PURPOSE: Familial clustering of abdominal aortic aneurysm was first noticed in 1977. METHODS: Through questionnaire and phone inquiry, familial data on 324 probands with abdominal aortic aneurysms allowed the establishment of 313 multigenerational pedigrees including 39 with multiple affected patients. RESULTS: There were 276 sporadic cases (264 men, 12 women); 81 cases belonged to multiplex pedigrees (76 men; 5 women). We compared familial and sporadic male cases; the ages at diagnosis were 64.1 +/- 7.9 years and 66.0 +/- 7.3 years (p < 0.05), respectively, the ages at rupture were 65.4 +/- 6.6 years and 75.2 +/- 8.6 years (p < 0.001), and the rupture rate was 32.4% and 8.7% (p < 0.001). Survival curves were computed. Relative risk for male siblings of a male patient was 18. We performed a segregation analysis with the mixed model, the most likely explanation for occurrence of abdominal aortic aneurysm in our families was a single gene effect showing dominant inheritance. The frequency of the morbid allele was 1:250, and its age-related penetrance was not higher than 0.4. CONCLUSION: This analysis indicates the preeminence of genetic factors on multifactorial/environmental effects of the pathogenesis of abdominal aortic aneurysm. [less ▲]

Detailed reference viewed: 9 (2 ULg)
Full Text
Peer Reviewed
See detailMonosomy 11q: Report of Two Familial Cases and Review of the Literature
Hustinx, Roland ULg; Verloes, Alain ULg; Grattagliano, B. et al

in American Journal of Medical Genetics (1993), 47(3), 312-7

We present four children from two families with the typical 11q- phenotype resulting from an unbalanced segregation of a parental translocation. In the first family, the father had a 46,XY,t(5;11)(q24;q23 ... [more ▼]

We present four children from two families with the typical 11q- phenotype resulting from an unbalanced segregation of a parental translocation. In the first family, the father had a 46,XY,t(5;11)(q24;q23.3) constitution. The father of the three other children had a 46,XY,t(11;17)(q23;p13) translocation. Despite associated partial deletion, three of the children had a typical 11q- phenotype. The fourth one, whose pregnancy was terminated in the second trimester, had a hypoplastic left heart but no other considered gross anomalies. A review of 36 previous cases, including 5 due to translocations (4 familial rearrangements, and 1 of unknown origin) is given with emphasis on the relationships between break-points and phenotype. Undescribed manifestations in our patients include agenesis of corpus callosum adactyly and malrotation of the gut. [less ▲]

Detailed reference viewed: 14 (3 ULg)
Peer Reviewed
See detailBrachymorphism-Onychodysplasia-Dysphalangism Syndrome
Verloes, Alain ULg; Bonneau, D.; Guidi, O. et al

in Journal of Medical Genetics (1993), 30(2), 158-61

Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointed chin), microcephaly, hypo/aplasia of the ... [more ▼]

Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointed chin), microcephaly, hypo/aplasia of the terminal fifth digits, and (sub)normal intelligence. Radiological findings include hypo/aplasia or fusion of the distal phalanges of the fifth finger and toe, brachymesophalangism V, and nail dysplasia or aplasia. One child had cystic adenomatoid disease of the lung. The pattern of anomalies presented by these children closely resembles a syndrome incompletely delineated in 1971 by Senior in six children, which has often been considered to be a mild form of Coffin-Siris syndrome. We suggest that this is an independent entity (BOD syndrome). The aetiology is still unknown. Differential diagnosis and nosological difficulties are discussed. [less ▲]

Detailed reference viewed: 11 (0 ULg)
Peer Reviewed
See detailAcromelic Frontonasal "Dysplasia": Further Delineation of a Subtype with Brain Malformation and Polydactyly (Toriello Syndrome)
Verloes, Alain ULg; Gillerot, Y.; Walczak, E. et al

in American Journal of Medical Genetics (1992), 42(2), 180-3

We report on a stillborn boy with frontonasal malformation (Sedano-Jirasek type D-DeMyer type I), associated with encephalocoele, occipital meningocele and preaxial polydactyly of the feet. This form of ... [more ▼]

We report on a stillborn boy with frontonasal malformation (Sedano-Jirasek type D-DeMyer type I), associated with encephalocoele, occipital meningocele and preaxial polydactyly of the feet. This form of frontonasal dysplasia was documented previously in a few other cases with various combinations of postaxial polydactyly, tibial hypoplasia, epibulbar dermoid, occipital encephalocoele, corpus callosum agenesis and Dandy-Walker malformation. Most cases are sporadic. [less ▲]

Detailed reference viewed: 12 (0 ULg)
Peer Reviewed
See detailCombined 10pter-->P11 and 18pter-->Q11 Trisomy in a 7-Year-Old Child
Lapiere, J. C.; Verloes, Alain ULg; Herens, Christian ULg et al

in Genetic Counseling (Geneva, Switzerland) (1992), 3(3), 155-9

We report a severely mentally retarded, dysmorphic girl aged 7 years with a 47,XX, +der(18), t(10;18)(p11.2;q11.2)mat. The phenotype of our patient is compared with 6 cases of trisomy 10p and 10 cases of ... [more ▼]

We report a severely mentally retarded, dysmorphic girl aged 7 years with a 47,XX, +der(18), t(10;18)(p11.2;q11.2)mat. The phenotype of our patient is compared with 6 cases of trisomy 10p and 10 cases of trisomy 18q- from the literature. The short trisomic segment 10pter-10p11 appears to affect more the phenotype than the trisomic segment 18qter-q11. [less ▲]

Detailed reference viewed: 8 (0 ULg)
Peer Reviewed
See detailLe dépistage prénatal de la trisomie 21 sur sérum maternel. Mise au point
Koulischer, Lucien ULg; Schoos, Roland ULg; Verloes, Alain ULg et al

in Revue Médicale de Liège (1991), 46(12), 625-32

Detailed reference viewed: 24 (3 ULg)
Peer Reviewed
See detailBranchial Arch Anomalies in Trisomy 18
Verloes, Alain ULg; Seret, N.; Bernier, V. et al

in Annales de Génétique (1991), 34(1), 22-4

The authors report two newborns and one fetus with trisomy 18, who have severe anomalies of the first branchial arch: extreme microtia with imperforate external meatus in two cases, and hemifacial ... [more ▼]

The authors report two newborns and one fetus with trisomy 18, who have severe anomalies of the first branchial arch: extreme microtia with imperforate external meatus in two cases, and hemifacial microsomia in a third one. Those cases point to the huge phenotypic variability of the trisomy 18. [less ▲]

Detailed reference viewed: 5 (0 ULg)