OVERLAPPING SUBMICROSCOPIC DELETIONS IN XQ28 IN 2 UNRELATED BOYS WITH DEVELOPMENTAL DISORDERS - IDENTIFICATION OF A GENE NEAR FRAXE

AK GEDEON, M KEINANEN, LC ADES, H KAARIAINEN, J GECZ, E BAKER, GR SUTHERLAND, JC MULLEY

Research output: Contribution to journalArticle

Abstract

Two unrelated boys are described with delay in development and submicroscopic deletions in Xq28, near FRAXE. Molecular diagnosis to exclude the fragile X (FRAXA) syndrome used the direct probe pfxa3, together with a control probe pS8 (DXS296), against PstI restriction digests of DNA. Deletions were detected initially by the control probe pS8, which is an anonymous fragment subcloned from YAC 539, within 1 Mb distal to FRAXA. Further molecular analyses determined that the maximum size of the deletion is

Original languageEnglish
Pages (from-to)907-914
Number of pages8
JournalAmerican Journal of Human Genetics
Volume56
Issue number4
Publication statusPublished - Apr 1995
Externally publishedYes

Cite this

GEDEON, AK ; KEINANEN, M ; ADES, LC ; KAARIAINEN, H ; GECZ, J ; BAKER, E ; SUTHERLAND, GR ; MULLEY, JC. / OVERLAPPING SUBMICROSCOPIC DELETIONS IN XQ28 IN 2 UNRELATED BOYS WITH DEVELOPMENTAL DISORDERS - IDENTIFICATION OF A GENE NEAR FRAXE. In: American Journal of Human Genetics. 1995 ; Vol. 56, No. 4. pp. 907-914.
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abstract = "Two unrelated boys are described with delay in development and submicroscopic deletions in Xq28, near FRAXE. Molecular diagnosis to exclude the fragile X (FRAXA) syndrome used the direct probe pfxa3, together with a control probe pS8 (DXS296), against PstI restriction digests of DNA. Deletions were detected initially by the control probe pS8, which is an anonymous fragment subcloned from YAC 539, within 1 Mb distal to FRAXA. Further molecular analyses determined that the maximum size of the deletion is",
keywords = "FRAGILE-X-SYNDROME, MENTAL-RETARDATION, FMR-1 GENE, DNA, HYPERMETHYLATION, AMPLIFICATION, INACTIVATION, EXPRESSION, PHENOTYPE, SEQUENCE",
author = "AK GEDEON and M KEINANEN and LC ADES and H KAARIAINEN and J GECZ and E BAKER and GR SUTHERLAND and JC MULLEY",
year = "1995",
month = "4",
language = "English",
volume = "56",
pages = "907--914",
journal = "The American Journal of Human Genetics",
issn = "0002-9297",
publisher = "UNIV CHICAGO PRESS",
number = "4",

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GEDEON, AK, KEINANEN, M, ADES, LC, KAARIAINEN, H, GECZ, J, BAKER, E, SUTHERLAND, GR & MULLEY, JC 1995, 'OVERLAPPING SUBMICROSCOPIC DELETIONS IN XQ28 IN 2 UNRELATED BOYS WITH DEVELOPMENTAL DISORDERS - IDENTIFICATION OF A GENE NEAR FRAXE' American Journal of Human Genetics, vol. 56, no. 4, pp. 907-914.

OVERLAPPING SUBMICROSCOPIC DELETIONS IN XQ28 IN 2 UNRELATED BOYS WITH DEVELOPMENTAL DISORDERS - IDENTIFICATION OF A GENE NEAR FRAXE. / GEDEON, AK; KEINANEN, M; ADES, LC; KAARIAINEN, H; GECZ, J; BAKER, E; SUTHERLAND, GR; MULLEY, JC.

In: American Journal of Human Genetics, Vol. 56, No. 4, 04.1995, p. 907-914.

Research output: Contribution to journalArticle

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AU - GEDEON, AK

AU - KEINANEN, M

AU - ADES, LC

AU - KAARIAINEN, H

AU - GECZ, J

AU - BAKER, E

AU - SUTHERLAND, GR

AU - MULLEY, JC

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AB - Two unrelated boys are described with delay in development and submicroscopic deletions in Xq28, near FRAXE. Molecular diagnosis to exclude the fragile X (FRAXA) syndrome used the direct probe pfxa3, together with a control probe pS8 (DXS296), against PstI restriction digests of DNA. Deletions were detected initially by the control probe pS8, which is an anonymous fragment subcloned from YAC 539, within 1 Mb distal to FRAXA. Further molecular analyses determined that the maximum size of the deletion is

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