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 language | English |
|---|---|
| Pages (from-to) | 907-914 |
| Number of pages | 8 |
| Journal | American Journal of Human Genetics |
| Volume | 56 |
| Issue number | 4 |
| Publication status | Published - Apr 1995 |
| Externally published | Yes |
Cite this
}
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 journal › Article
TY - JOUR
T1 - OVERLAPPING SUBMICROSCOPIC DELETIONS IN XQ28 IN 2 UNRELATED BOYS WITH DEVELOPMENTAL DISORDERS - IDENTIFICATION OF A GENE NEAR FRAXE
AU - GEDEON, AK
AU - KEINANEN, M
AU - ADES, LC
AU - KAARIAINEN, H
AU - GECZ, J
AU - BAKER, E
AU - SUTHERLAND, GR
AU - MULLEY, JC
PY - 1995/4
Y1 - 1995/4
N2 - 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
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
KW - FRAGILE-X-SYNDROME
KW - MENTAL-RETARDATION
KW - FMR-1 GENE
KW - DNA
KW - HYPERMETHYLATION
KW - AMPLIFICATION
KW - INACTIVATION
KW - EXPRESSION
KW - PHENOTYPE
KW - SEQUENCE
M3 - Article
VL - 56
SP - 907
EP - 914
JO - The American Journal of Human Genetics
JF - The American Journal of Human Genetics
SN - 0002-9297
IS - 4
ER -