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PMID: 7169221 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

Prenatal detection of a fetus hemizygous for the fragile X-chromosome.

Human genetics ·Vol. 62 ·No. 3 ·1982-00-00 ·Pages 285-6

Schmidt A, Passarge E, Seemanová E, Macek M

Abstract

暂无摘要

MeSH Terms

Amniocentesis Female Fragile X Syndrome/diagnosis,genetics Humans Karyotyping Male Pregnancy Sex Chromosome Aberrations/diagnosis Sex Chromosomes X Chromosome

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Schmidt A

Passarge E

Seemanová E

Macek M

References (11)

11 references, click to expand

X-linked mental retardation, macro-orchidism, and the Xq27 fragile site.
J Pediatr. 1980 May;96(5):837-41 PMID: 7189210
Expression in lymphocyte and fibroblast culture of the fragile X chromosome: a new technical approach.
Hum Genet. 1981;59(2):166-9 PMID: 7327576
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
Feasibility of fragile X chromosome prenatal diagnosis demonstrated.
Lancet. 1981 Dec 5;2(8258):1292 PMID: 6118704
Expression in fibroblast culture of the satellited-X chromosome associated with familial sex-linked mental retardation.
Hum Genet. 1980 Feb;53(2):267-9 PMID: 6928413
Marker X chromosome induction in fibroblasts by FUdR.
Am J Med Genet. 1981;9(3):263-4 PMID: 6456666
Nonspecific X-linked mental retardation I: a review with information from 24 new families.
Am J Med Genet. 1980;7(4):443-60 PMID: 7011032
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
A simple method to demonstrate the fragile X chromosome in fibroblasts.
Hum Genet. 1981;59(2):186 PMID: 7035336
Heritable fragile sites on human chromosomes. III. Detection of fra(X)(q27) in males with X-linked mental retardation and in their female relatives.
Hum Genet. 1979;53(1):23-7 PMID: 535898

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00333539

Published

1982-00-00

Pages

285-6

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00333539 View journal details

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Prenatal detection of a fetus hemizygous for the fragile X-chromosome.

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