Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation
about
A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndromeThe complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypesNUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylationBreakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohortLarge duplications at reciprocal translocation breakpoints that might be the counterpart of large deletions and could arise from stalled replication bubbles.Array painting using microdissected chromosomes to map chromosomal breakpoints.
P2860
Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation
description
2003 nî lūn-bûn
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2003 թուականի Մարտին հրատարակուած գիտական յօդուած
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2003 թվականի մարտին հրատարակված գիտական հոդված
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2003年の論文
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2003年論文
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2003年論文
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2003年論文
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2003年論文
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2003年論文
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2003年论文
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name
Identification of a 650 kb dup ...... n-syndromic mental retardation
@ast
Identification of a 650 kb dup ...... n-syndromic mental retardation
@en
type
label
Identification of a 650 kb dup ...... n-syndromic mental retardation
@ast
Identification of a 650 kb dup ...... n-syndromic mental retardation
@en
prefLabel
Identification of a 650 kb dup ...... n-syndromic mental retardation
@ast
Identification of a 650 kb dup ...... n-syndromic mental retardation
@en
P2093
P2860
P356
P1476
Identification of a 650 kb dup ...... n-syndromic mental retardation
@en
P2093
P2860
P304
P356
10.1136/JMG.40.3.169
P407
P577
2003-03-01T00:00:00Z