Fryns JP - Search Results

1

Holoprosencephaly in a fetus with a 46,XX,der(7), t(7;8)(q36.1;p12) mat karyotype.

Kleczkowska A, Fryns JP, Moerman P, Vandenberghe K, Van den Berghe H. Kleczkowska A, et al. Among authors: fryns jp. Ann Genet. 1990;33(2):111-2. Ann Genet. 1990. PMID: 2241084

2

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

Kleczkowska A, Fryns JP, van den Berghe H. Kleczkowska A, et al. Among authors: fryns jp. Ann Genet. 1992;35(4):217-23. Ann Genet. 1992. PMID: 1296518 Review.

3

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

Fryns JP, Kleczkowska A, Decock P, Massa G, van den Berghe H. Fryns JP, et al. Ann Genet. 1992;35(4):234-6. Ann Genet. 1992. PMID: 1296522

4

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

Ioan DM, Maximilian C, Kleczkowska A, Fryns JP. Ioan DM, et al. Among authors: fryns jp. Ann Genet. 1992;35(3):167-9. Ann Genet. 1992. PMID: 1466567 Review.

5

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

Fryns JP, Kleczkowska A, Smeets E, Van Den Berghe H. Fryns JP, et al. Ann Genet. 1992;35(2):121-3. Ann Genet. 1992. PMID: 1524410

6

Lobar holoprosencephaly and Xq22 deletion.

Petit P, Moerman P, Fryns JP. Petit P, et al. Among authors: fryns jp. Genet Couns. 1991;2(2):119-21. Genet Couns. 1991. PMID: 1781956

7

Mosaic 46, XY/47,XY, + der(18)t(Y;18)(q11.22;q11.2) karyotype, moderate mental retardation and non-specific dysmorphism.

Fryns JP, Kleczkowska A, Van Den Berghe H. Fryns JP, et al. Genet Couns. 1990;1(2):173-7. Genet Couns. 1990. PMID: 2081001 Review. No abstract available.

8

Interstitial deletion of the short arm of chromosome 12. Report of a new patient and review of the literature.

Fryns JP, Kleczkowska A, Van den Berghe H. Fryns JP, et al. Ann Genet. 1990;33(1):43-5. Ann Genet. 1990. PMID: 2195980 Review.

9

Direct duplication 16q11.1----16q13 is not associated with a typical dysmorphic syndrome.

Fryns JP, Kleczkowska A, Decock P, Van den Berghe H. Fryns JP, et al. Ann Genet. 1990;33(1):46-8. Ann Genet. 1990. PMID: 2195981 Review.

10

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.

Fryns JP, Kleczkowska A, Jaeken J, Van Herck K, Van den Berghe MH. Fryns JP, et al. Ann Genet. 1989;32(3):177-9. Ann Genet. 1989. PMID: 2486064

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