Expression in fibroblast culture of the satellited-X chromosome associated with familial sex-linked mental retardation.

Human genetics ·Vol. 53 ·No. 2 ·1980-02-00 ·Pages 267-9

Jacky PB, Dill FJ

Abstract

The satellited-X chromosome previously shown in lymphocyte culture to be associated with certain types of sex-linked mental retardation has, for the first time, been demonstrated in cultured skin fibroblasts and lymphocytes from two affected males and an obligate carrier female. These findings provide a basis for reliable diagnosis of female carriers and for the development of prenatal diagnosis.

MeSH Terms

Adult Cells, Cultured Chromosome Aberrations Female Fibroblasts/ultrastructure Genetic Carrier Screening Genetic Linkage Genetic Markers Humans Intellectual Disability/genetics Lymphocytes/ultrastructure Male Middle Aged Prenatal Diagnosis Sex Chromosomes Skin/cytology X Chromosome

Chemicals

Genetic Markers

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Jacky P B

Dill F J

References (9)

9 references, click to expand

Familial X-linked mental retardation with an X chromosome abnormality.
J Med Genet. 1977 Feb;14(1):46-50 PMID: 839500
Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium.
Science. 1977 Jul 15;197(4300):265-6 PMID: 877551
Banding analysis of abnormal karyotypes in spontaneous abortion.
Am J Hum Genet. 1973 Sep;25(5):539-47 PMID: 4741848
Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture.
Am J Hum Genet. 1979 Mar;31(2):125-35 PMID: 36752
Effect of 5-bromodeoxyuridine on mamalian chromosomes.
Proc Natl Acad Sci U S A. 1961 Mar 15;47:396-403 PMID: 13716386
Non-condensation of one segment of a chromosome No. 2 in a male with an otherwise normal karyotype (and severe hypospadias).
Humangenetik. 1970;9(1):97-104 PMID: 5489000
A marker X chromosome.
Am J Hum Genet. 1969 May;21(3):231-44 PMID: 5794013
Marker X chromosomes, mental retardation and macro-orchidism.
N Engl J Med. 1978 Dec 28;299(26):1472 PMID: 714140
Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics.
Am J Hum Genet. 1979 Mar;31(2):136-48 PMID: 453198

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00273509

Published

1980-02-00

Pages

267-9

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00273509 View journal details

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Expression in fibroblast culture of the satellited-X chromosome associated with familial sex-linked mental retardation.

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