Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype.
about
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypesCharacterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeCGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomaliesNonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.Hypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication: A Case Report.Human centromere repositioning within euchromatin after partial chromosome deletion.
P2860
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P2860
Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype.
description
2001 nî lūn-bûn
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2001年の論文
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name
Trisomy 17p10-p12 resulting fr ...... delineation of the phenotype.
@en
Trisomy 17p10-p12 resulting fr ...... delineation of the phenotype.
@nl
type
label
Trisomy 17p10-p12 resulting fr ...... delineation of the phenotype.
@en
Trisomy 17p10-p12 resulting fr ...... delineation of the phenotype.
@nl
prefLabel
Trisomy 17p10-p12 resulting fr ...... delineation of the phenotype.
@en
Trisomy 17p10-p12 resulting fr ...... delineation of the phenotype.
@nl
P2093
P2860
P1433
P1476
Trisomy 17p10-p12 resulting fr ...... delineation of the phenotype.
@en
P2093
Shaffer LG
Stankiewicz P
P2860
P304
P356
10.1034/J.1399-0004.2001.600503.X
P577
2001-11-01T00:00:00Z