Replication status of the fragile X chromosome, fra(X)(q27), in three heterozygous females.

Human genetics ·Vol. 62 ·No. 3 ·1982-00-00 ·Pages 282-4

Howell RT, McDermott A

Abstract

Investigation of lymphocyte cultures from three females heterozygous for fra(X)(q27) shows widely differing proportions of early and late replicating X chromosomes having the fragile site, and suggests that the replication status of the fragile X may be related to the mental capacity of the patient. The study has utilised a sequential staining technique to reduce ascertainment bias, and evidence is presented to suggest that the expression of the fragile site is independent of the differential incorporation of BUdR into the early and late replicating X chromosomes.

MeSH Terms

Adult Cell Division Female Fragile X Syndrome/genetics Heterozygote Humans Karyotyping Middle Aged Sex Chromosome Aberrations/genetics Sex Chromosomes X Chromosome

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Howell R T

McDermott A

References (11)

11 references, click to expand

X-linked mental retardation with fragile X. A pedigree showing transmission by apparently unaffected males and partial expression in female carriers.
Hum Genet. 1981;59(1):23-5 PMID: 10819017
FUdR induction of the X chromosome fragile site: evidence for the mechanism of folic acid and thymidine inhibition.
Am J Hum Genet. 1981 Mar;33(2):234-42 PMID: 6452060
Fragile X chromosome: consistent demonstration of fragile site in fibroblast cultures.
Lancet. 1982 Jan 9;1(8263):101 PMID: 6119461
Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27).
N Engl J Med. 1980 Sep 18;303(12):662-4 PMID: 6931286
Fragile site Xq27 and mental retardation. Clinical and cytogenetic manifestation in heterozygotes and hemizygotes of five kindreds.
Hum Genet. 1982;60(4):322-7 PMID: 6955257
Fragile sites in human chromosomes II: demonstration of the fragile site Xq27 in carriers of X-linked mental retardation.
Am J Med Genet. 1980;7(4):497-501 PMID: 6938133
Apparent homozygosity for the fragile site at Xq28 in a normal female.
Hum Genet. 1982;61(1):60-2 PMID: 7129428
X-linked mental retardation: a study of 7 families.
Am J Med Genet. 1980;7(4):471-89 PMID: 7211957
A marker X chromosome.
Am J Hum Genet. 1969 May;21(3):231-44 PMID: 5794013
X-linked mental retardation with macro-orchidism and marker-X chromosomes.
Am J Med Genet. 1980;7(4):433-41 PMID: 6938132
Replication pattern in XXY cells with fra(X).
Hum Genet. 1982;60(3):278-80 PMID: 7201972

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00333538

Published

1982-00-00

Pages

282-4

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00333538 View journal details

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Replication status of the fragile X chromosome, fra(X)(q27), in three heterozygous females.

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