Mental retardation associated with "balanced" chromosome rearrangements.
about
Multiple exostoses in a patient with t(8;11)(q24.11;p15.5)Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencingConsensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesDe novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpointsDisease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.Outcome of de novo balanced translocations ascertained prenatallyFamilial mental retardation associated with balanced chromosome rearrangement rcp t(8;11)(q24.3;p15.1).Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population.Familial paracentric inversion of chromosome 15 (q15q24).Translocation (1;22) in a child with bilateral oblique facial clefts.Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.Clinical genetic testing for patients with autism spectrum disordersCommon sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion.Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.A severely retarded male with deletion of chromosomes 15 (pter leads to q13) and 10 (q 26 leads to qter)A complex double translocation involving four chromosomes and five breakpoints in a child with mild mental retardation.A case of de novo, double, balanced translocations (distal 9p to 3p, distal 18q to 3q).Piebald trait in a retarded child with interstitial deletion of chromosome 4.
P2860
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P2860
Mental retardation associated with "balanced" chromosome rearrangements.
description
1977 nî lūn-bûn
@nan
1977 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1977 թվականի մարտին հրատարակված գիտական հոդված
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1977年の論文
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1977年論文
@yue
1977年論文
@zh-hant
1977年論文
@zh-hk
1977年論文
@zh-mo
1977年論文
@zh-tw
1977年论文
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name
Mental retardation associated with "balanced" chromosome rearrangements.
@ast
Mental retardation associated with "balanced" chromosome rearrangements.
@en
type
label
Mental retardation associated with "balanced" chromosome rearrangements.
@ast
Mental retardation associated with "balanced" chromosome rearrangements.
@en
prefLabel
Mental retardation associated with "balanced" chromosome rearrangements.
@ast
Mental retardation associated with "balanced" chromosome rearrangements.
@en
P2093
P2860
P1476
Mental retardation associated with "balanced" chromosome rearrangements.
@en
P2093
Funderburk SJ
Sparkes RS
P2860
P304
P407
P577
1977-03-01T00:00:00Z