A. Kleczkowska

发表

A genetic‐diagnostic survey in an institutionalized population of 173 severely mentally retarded patients

J. Fryns, H. Berghe, A. Kleczkowska, 1986, Clinical genetics.

Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1).

J. Fryns, H. van den Berghe, E. Smeets, 1990, American journal of medical genetics.

A systematic cytogenetic study of a population of 1170 mentally retarded and/or behaviourly disturbed patients including fragile X-screening. The Hondsberg experience.

J. Fryns, L. Curfs, A. Kleczkowska, 1988, Journal de genetique humaine.

The Floating‐Harbor syndrome: two affected siblings in a family

J. Timmermans, J. Fryns, H. Berghe, 1996, Clinical genetics.

Apparent late-onset Cockayne syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2)).

J. Fryns, H. van den Berghe, H. Carton, 1991, American journal of medical genetics.

The pathology of trisomy 13 syndrome

J. Fryns, P. Moerman, J. Lauweryns, 1988, Human Genetics.

On the variable effect of mosaic normal/balanced chromosomal rearrangements in man

H. Berghe, J. Fryns, A. Kleczkowska, 1990, Journal of medical genetics.

Intelligence, behaviour and psychosocial development in Turner syndrome. A cross-sectional study of 50 pre-adolescent and adolescent girls (4-20 years).

J. Fryns, H. van den Berghe, G. Massa, 1993, Genetic counseling.

Hereditary hydronephrosis and the short arm of chromosome 6

J. Fryns, P. Moerman, K. Vandenberghe, 1993, Human Genetics.

Double autosomal chromosomal aberration (3p trisomy/9p monosomy) and sex-reversal.

H. van den Berghe, P. Casaer, J. Fryns, 1986, Annales de genetique.

Ring chromosome 21 in the mother and 21/21 translocation in the fetus: karyotype: 45,XX,-21,-21,+t(21;21)(p11;q11).

J. Fryns, A. Kleczkowska, 1987, Annales de genetique.

De novo 3q/7q translocation and associated interstitial 7q35 deletion

J. Fryns, H. Berghe, A. Kleczkowska, 1988, Clinical genetics.

Unusual in vivo rearrangements of the Y‐chromosome in two males

J. Fryns, H. Berghe, A. Kleczkowska, 1987, Clinical genetics.

Cytogenetic findings in a consecutive series of 478 patients with Turner syndrome. The Leuven experience 1965-1989.

J. Fryns, H. van den Berghe, H. Vandenberghe, 1990, Genetic counseling.

ASYMMETRIC TESTICULAR DYSGENESIS

J. Pilch, A. Kleczkowska, Z. Nowicki, 1974, Acta paediatrica Scandinavica.

Cytogenetic survey in couples with recurrent fetal wastage

H. Berghe, J. Fryns, A. Kleczkowska, 2004, Human Genetics.

On the familial occurrence of congenital bilateral absence of vas deferens

H. Berghe, J. Fryns, A. Kleczkowska, 1989, Clinical genetics.

Klinefelter syndrome and two fragile X chromosomes

H. Berghe, J. Fryns, A. Kleczkowska, 1984, Clinical genetics.

Cystic hygroma and hydrops fetalis in dup(11p) syndrome.

J. Fryns, H. van den Berghe, K. Vandenberghe, 1985, American journal of medical genetics.

Complex chromosomal rearrangement (CCR), moderate mental retardation and discrete dysmorphic syndrome.

J. Fryns, H. van den Berghe, A. Kleczkowska, 1993, Genetic counseling.

Proximal duplication of the long arm of chromosome 10 (10q11.2 → 10q22): a distinct clinical entity

H. Berghe, J. Fryns, A. Kleczkowska, 1987, Clinical genetics.

The fetal phenotype in 15q2 duplication.

J. Fryns, P. Moerman, H. van den Berghe, 1988, Annales de genetique.

Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter----8p23.1:).

J. Fryns, H. van den Berghe, A. Vogels, 1989, Annales de genetique.

Complex chromosomal rearrangements (CCR) and their genetic consequences.

J. Fryns, H. van den Berghe, J. Fryns, 1982, Journal de genetique humaine.

46,XX/46,XX,del(20)(pter-->p12.2) mosaicism limited to fibroblasts associated with MCA/MR and severe growth deficit.

H. van den Berghe, G. Massa, J. Fryns, 1992, Annales de genetique.

Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1

J. Fryns, H. Berghe, A. Kleczkowska, 1986, Clinical genetics.

Cytogenetic Findings in Moderate and Severe Mental Retardation A Study of an Institutionalized Population of 1991 Patients

H. Berghe, J. Fryns, A. Kleczkowska, 1984, Acta paediatrica Scandinavica. Supplement.

Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX,-13, +t(13;13)(p11;q11)/46,XX,del(13)(p11). A second example.

K. Van Herck, J. Jaeken, J. Fryns, 1989, Annales de genetique.

Double autosomal trisomy (1q21.2----qter and 14pter----q13) in a female fetus with nuchal oedema.

J. Fryns, P. Moerman, H. van den Berghe, 1987, Annales de genetique.

Centric fission of chromosome 7 with 47,XX,del(7)(pter----cen::q21----qter)+cen fr karyotype in a mother and proximal 7q deletion in two malformed newborns.

H. van den Berghe, J. Fryns, W. Vandecasseye, 1985, Annales de genetique.

Excess of mental retardation and/or congenital malformation in reciprocal translocations in man

J. Fryns, H. Berghe, A. Kleczkowska, 2004, Human Genetics.

Pericentric inversions in man: personal experience and review of the literature

J. Fryns, H. Berghe, J. Fryns, 2004, Human Genetics.

[Structural chromosomal rearrangements in couples with repeated miscarriages. Experience in Louvain].

H. van den Berghe, J. Fryns, A. Kleczkowska, 1988, Journal de genetique humaine.

Distinct dysmorphic syndrome in a child with inverted distal 5q duplication.

J. Fryns, H. van den Berghe, A. Kleczkowska, 1987, Annales de genetique.

Severe midline fusion defects in a newborn with 10q26----qter deletion.

H. van den Berghe, J. Fryns, A. Kleczkowska, 1989, Annales de genetique.

The Roberts tetraphocomelia syndrome: identical limb defects in two siblings.

J. Fryns, P. Moerman, H. van den Berghe, 1987, Annales de genetique.

Trisomy of the short arm of chromosome 4: the changing phenotype with age.

H. van den Berghe, J. Fryns, A. Kleczkowska, 1992, Annales de genetique.

Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1→p22)

J. Fryns, H. Berghe, A. Kleczkowska, 1985, Clinical genetics.

A distinct multiple congenital anomalies syndrome associated with distal 5q deletion (q35.1qter).

H. van den Berghe, J. Fryns, A. Kleczkowska, 1993, Annales de genetique.

Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5)(p13.1 → p15.3)

J. Fryns, P. Moerman, H. Berghe, 1987, Clinical genetics.

XYY syndrome and other Y chromosome polysomies. Mental status and psychosocial functioning.

H. van den Berghe, J. Fryns, A. Kleczkowska, 1995, Genetic counseling.

Partial duplication 8p due to interstitial duplication: inv dup(8)(p21.1----p22). Further delineation of the phenotype from birth to adulthood.

J. Fryns, H. van den Berghe, J. Jaeken, 1987, Annales de genetique.

Distal deletion of the long arm of chromosome number 1 (q43-->qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome.

J. Fryns, A. Kleczkowska, C. Maximilian, 1992, Annales de genetique.

Acrocentric/18p translocation in two mentally retarded males. Delineation of the adult phenotype.

J. Fryns, H. van den Berghe, E. Smeets, 1986, Annales de genetique.

Trisomy 3q2 and Pierre-Robin sequence in a boy with unbalanced 46,XY, der(10), t(3;10)(q23;q26.3) de novo karyotype.

J. Fryns, H. van den Berghe, J. Jaeken, 1988, Helvetica paediatrica acta.

Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents

J. Fryns, H. Berghe, A. Kleczkowska, 1983, Clinical genetics.

Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p.

K. Devriendt, J. Fryns, H. van den Berghe, 1993, Genetic counseling.

X‐chromosome polysomy in the female: personal experience and review of the literature

J. Fryns, H. Berghe, A. Kleczkowska, 1983, Clinical genetics.

The psychological profile of the fragile X syndrome

H. Berghe, J. Fryns, J. Jacobs, 1984, Clinical genetics.

Turner syndrome patients as adults: a study of their cognitive profile, psychosocial functioning and psychopathological findings.

J. Fryns, H. van den Berghe, A. Swillen, 1993, Genetic counseling.

Ring chromosome 15 syndrome. Further delineation of the adult phenotype.

J. Fryns, H. van den Berghe, A. Kleczkowska, 1986, Annales de genetique.

Turner syndrome: the Leuven experience (1965-1989) in 478 patients. I. Patient's age at the time of diagnosis in relation to chromosomal findings.

J. Fryns, H. van den Berghe, A. Kleczkowska, 1990, Genetic counseling.

Ring chromosome 21 in a normal female.

J. Fryns, A. Kleczkowska, 1984, Annales de genetique.

Ring chromosome 4 mosaicism and Potter sequence.

H. van den Berghe, J. Jaeken, J. Fryns, 1988, Annales de genetique.

Borderline intelligence and discrete craniofacial dysmorphism in an adolescent female with partial trisomy 7p due to a de novo tandem duplication 7 (p15.1-->p21.3).

J. Fryns, H. van den Berghe, A. Kleczkowska, 1994, Genetic counseling.

Complex Chromosomal Rearrangement in a Mentally Retarded Boy without Gross Dysmorphic Stigmata

H. Berghe, J. Fryns, A. Kleczkowska, 1984, Acta paediatrica Scandinavica.

Moderate mental retardation and mild dysmorphic syndrome in proximal 7q interstitial deletion.

H. van den Berghe, J. Fryns, A. Kleczkowska, 1987, Annales de genetique.

A new centromeric heteromorphism in the short arm of chromosome 20.

J. Fryns, H. van den Berghe, E. Smeets, 1988, Journal of medical genetics.

Transmission of ring chromosome 18 46,XX/46,XX,r(18) mosaicism in a mother and ring chromosome 18 syndrome in her son.

H. van den Berghe, E. Smeets, J. Fryns, 1992, Annales de genetique.

Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation

J. Fryns, H. Berghe, A. Kleczkowska, 1986, Clinical genetics.

Ring chromosome 6: twenty years follow-up.

H. van den Berghe, J. Fryns, A. Kleczkowska, 1990, Annales de genetique.

Paracentric inversions in man

J. Fryns, H. Berghe, A. Kleczkowska, 1986, Human Genetics.

Female pseudohermaphroditism with complete masculinisation of the external genitalia in two siblings. A new entity?

J. Fryns, H. Berghe, K. Vandenberghe, 1984, European Journal of Pediatrics.

Duplication in the long arm of the X-chromosome associated with spastic paraparesis and premature menopause.

H. van den Berghe, J. Fryns, A. Kleczkowska, 1993, Genetic counseling.

18p tetrasomy. Further evidence for a distinctive clinical syndrome.

H. van den Berghe, J. Fryns, A. Kleczkowska, 1985, Annales de genetique.

De novo Robertsonian D/D type translocations: the Leuven experience

H. Berghe, J. Fryns, A. Kleczkowska, 1989, Clinical genetics.

Robertsonian t(Dq;Dq) translocations in man.

J. Fryns, A. Kleczkowska, H. Van den Bergue, 1982, Journal de genetique humaine.

Tetraploidy with hydrops fetalis, cystic nuchal hygroma and 90, XX karyotype

J. Fryns, H. Berghe, K. Vandenberghe, 1987, Clinical genetics.

X-chromosome polysomy in the male

J. Fryns, H. Berghe, A. Kleczkowska, 1988, Human Genetics.

XY/XXY mosaicism and fragile X syndrome.

J. Fryns, H. van den Berghe, A. Kleczkowska, 1983, Annales de genetique.

Small accessory chromosomes (SAC) and their genotype--phenotype correlation.

H. van den Berghe, J. Fryns, A. Kleczkowska, 1982, Journal de genetique humaine.

Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype.

J. Fryns, H. van den Berghe, H. Kenis, 1989, Annales de genetique.

On the excess of mental retardation and/or congenital malformations in apparently balanced reciprocal translocations. A critical review of the Leuven data 1966-1991.

J. Fryns, H. van den Berghe, J. Fryns, 1991, Genetic counseling.

Inactivation pattern of the fragile X in heterozygous carriers

H. Berghe, J. Fryns, A. Kleczkowska, 1988, Human Genetics.

Inactivation pattern of the fragile X in heterozygous carriers.

H. van den Berghe, J. Fryns, A. Kleczkowska, 1989, Human genetics.

High incidence of mental retardation in Turner syndrome patients with ring chromosome X formation.

J. Fryns, H. van den Berghe, A. Kleczkowska, 1990, Genetic counseling.

Autosomal whole arm translocations in man

J. Fryns, H. Berghe, A. Kleczkowska, 1986, Clinical genetics.

The fetal phenotype in 2p trisomy.

J. Fryns, H. van den Berghe, A. Kleczkowska, 1986, Annales de genetique.

Ring chromosome 14. A distinct clinical entity.

H. van den Berghe, J. Fryns, A. Kleczkowska, 1983, Journal de genetique humaine.

Autism and ring chromosome 18 mosaicism

J. Fryns, A. Kleczkowska, 1992, Clinical genetics.

[An excess of mental retardation and/or congenital malformations in carriers of reciprocal translocations. A difficult and delicate problem in genetic counseling].

H. van den Berghe, J. Fryns, A. Kleczkowska, 1987, Journal de genetique humaine.

Role of gonadal dysgenesis in gonadoblastoma induction in 46, XY individuals. The Leuven experience in 46, XY pure gonadal dysgenesis and testicular feminization syndromes.

J. Fryns, H. Vandenberghe, T. Lukusa, 1991, Genetic Counseling.

Reciprocal translocation mosaicism in man.

J. Fryns, A. Kleczkowska, 1986, American journal of medical genetics.

Mosaic normal/unbalanced karyotype and recurrent fetal wastage.

J. Fryns, A. Kleczkowska, 1990, American journal of medical genetics.

On thevariable effect ofmosaic chromosomal rearrangements inman

J. Fryns, A. Kleczkowska, H. Vandenberghe, 1990 .

On the variable effect of mosaic chromosomal rearrangements in man

H. Berghe, J. Fryns, A. Kleczkowska, 2022 .

Familial transmission of autosomal whole arm translocation.

J. Fryns, H. van den Berghe, A. Kleczkowska, 1988, Journal of medical genetics.

De novo complex chromosomal rearrangement (CCR) in a severely mentally retarded boy.

H. Kenis, J. Fryns, A. Kleczkowska, 1984, Annales de genetique.

Frontonasal malformation and reciprocal translocation t(15;22)(q22;q13)

J. Fryns, H. Berghe, A. Kleczkowska, 1993, Clinical genetics.

Opitz trigonocephaly syndrome and terminal transverse limb reduction defects.

H. van den Berghe, J. Fryns, A. Kleczkowska, 1985, Helvetica paediatrica acta.

Angelman's syndrome and 15q11-13 deletions.

H. van den Berghe, J. Fryns, A. Kleczkowska, 1989, Journal of medical genetics.

Fertility in patients with X chromosome deletions

J. Fryns, A. Kleczkowska, H. V. D. Berghe, 1982, Clinical genetics.

Normal testicular histology in a mid‐trimester 49,XXXXY fetus

P. Moerman, J. Fryns, A. Kleczkowska, 1995, Clinical genetics.

Partial distal 6p trisomy in a malformed fetus.

J. Fryns, H. van den Berghe, A. Kleczkowska, 1986, Annales de genetique.