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Literature DB >> 290816

X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci.

R Bernstein, B Dawson, R Kohl, T Jenkins.

Abstract

Cytogenetic studies on a retarded girl showed a complex S;15 translocation, karyotype 45,X,-15,+t(X15). The translocation X chromosome was non-randomly partially inactivated, the inactivation being mainly confined to the X segment and in some cells only to the X long arm. Gene marker studies failed to show anomalous segregation of the hexosaminidase A gene or any other gene markers tested.

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Year: 1979 PMID： 290816 PMCID： PMC1012665 DOI： 10.1136/jmg.16.4.254

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

24 in total

1. Replication pattern of the X chromosomes in three X/autosomal translocations.

Authors: A Hagemeijer; J Hoovers; E M Smit; D Bootsma
Journal: Cytogenet Cell Genet Date: 1977

2. Unbalanced X-autosomal translocation with inactivation of the normal X chromosome.

Authors: M Mikkelsen; G Dahl
Journal: Cytogenet Cell Genet Date: 1973

3. Banding patterns and autoradiographic studies of cells with an X-autosome translocation.

Authors: M Lucas; A Smithies
Journal: Ann Hum Genet Date: 1973-07 Impact factor: 1.670

4. [Staining of human chromosomes with acridine orange after treatment with 5 bromodeoxyuridine].

Authors: B Dutrillaux; C Laurent; J Couturier; J Lejeune
Journal: C R Acad Hebd Seances Acad Sci D Date: 1973-06-13

5. Genetic variation of the soluble form of NADP-dependent isocitric dehydrogenase in man.

Authors: S H Chen; B L Fossum; E R Giblett
Journal: Am J Hum Genet Date: 1972-05 Impact factor: 11.025

6. A simple technique for demonstrating centromeric heterochromatin.

Authors: A T Sumner
Journal: Exp Cell Res Date: 1972-11 Impact factor: 3.905

7. Two human X-autosome translocations identified by autoradiography and fluorescence.

Authors: M M Cohen; C C Lin; V Sybert; E J Orecchio
Journal: Am J Hum Genet Date: 1972-09 Impact factor: 11.025

8. A simple R banding technic.

Authors: R S Verma; H A Lubs
Journal: Am J Hum Genet Date: 1975-01 Impact factor: 11.025

9. Polymorphism of soluble glutamic-pyruvic transaminase: a new genetic marker in man.

Authors: S H Chen; E R Giblett
Journal: Science Date: 1971-07-09 Impact factor: 47.728

10. The status of the gene map of the human chromosomes.

Authors: V A McKusick; F H Ruddle
Journal: Science Date: 1977-04-22 Impact factor: 47.728

14 in total

1. X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease.

Authors: A Harris; J Collins; D Vetrie; C Cole; M Bobrow
Journal: J Med Genet Date: 1992-09 Impact factor: 6.318

Review 2. Medical genetics in South Africa.

Authors: T Jenkins
Journal: J Med Genet Date: 1990-12 Impact factor: 6.318

Review 3. Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors: N Tommerup
Journal: J Med Genet Date: 1993-09 Impact factor: 6.318

4. Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings.

Authors: R Bernstein; T Jenkins; B Dawson; J Wagner; G Dewald; G C Koo; S S Wachtel
Journal: J Med Genet Date: 1980-08 Impact factor: 6.318

Review 5. Incontinentia pigmenti nomenclature.

Authors: V P Sybert
Journal: Am J Hum Genet Date: 1994-07 Impact factor: 11.025