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Literature DB >> 1433240

De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome.

L Telvi¹, J M Pinard, R Ion, P M Sinet, A Nicole, J Feingold, O Dulac, A Pompidou, G Ponsot.

Abstract

We describe a female infant with mental retardation and some of the phenotypic features of Williams-Beuren syndrome. Chromosome analysis showed t(X;21)(q28;q11). Diagnosis, inactivation of the X chromosome, and possible involvement of the translocation breakpoints in the pathogenesis of this syndrome are discussed.

Entities: Disease Species

Mesh：

Year: 1992 PMID： 1433240 PMCID： PMC1016139 DOI： 10.1136/jmg.29.10.747

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

20 in total

1. Supravalvular aortic stenosis.

Authors: J C WILLIAMS; B G BARRATT-BOYES; J B LOWE
Journal: Circulation Date: 1961-12 Impact factor: 29.690

2. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance.

Authors: A J BEUREN; J APITZ; D HARMJANZ
Journal: Circulation Date: 1962-12 Impact factor: 29.690

3. Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21).

Authors: J Couturier; B Dutrillaux; P Garber; O Raoul; M F Croquette; J C Fourlinnie; E Maillard
Journal: Hum Genet Date: 1979-07-18 Impact factor: 4.132

4. A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.

Authors: R D Jefferson; J Burn; K L Gaunt; S Hunter; E V Davison
Journal: J Med Genet Date: 1986-10 Impact factor: 6.318

De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome.

1. Supravalvular aortic stenosis.

2. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance.

3. Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21).

4. A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.

5. A simple technique for demonstrating centromeric heterochromatin.

6. The iris in Williams syndrome.

7. Superoxide dismutase: improved assays and an assay applicable to acrylamide gels.

8. Familial Williams syndrome.

9. [120 cases of the Williams and Beuren syndrome].

10. Contractures in patients with Williams syndrome.

1. Chromosome abnormalities and Williams-Beuren syndrome.