Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype.
about
Chromosome 13q neocentromeres: molecular cytogenetic characterization of three additional cases and clinical spectrum.Mosaic inv dup(8p) marker chromosome with stable neocentromere suggests neocentromerization is a post-zygotic event.Neocentromeres: role in human disease, evolution, and centromere studyPrenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis.A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplicationsNeocentromeres: new insights into centromere structure, disease development, and karyotype evolution
P2860
Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype.
description
2000 nî lūn-bûn
@nan
2000 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի մարտին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Mirror-symmetric duplicated ch ...... sical Down syndrome phenotype.
@ast
Mirror-symmetric duplicated ch ...... sical Down syndrome phenotype.
@en
type
label
Mirror-symmetric duplicated ch ...... sical Down syndrome phenotype.
@ast
Mirror-symmetric duplicated ch ...... sical Down syndrome phenotype.
@en
prefLabel
Mirror-symmetric duplicated ch ...... sical Down syndrome phenotype.
@ast
Mirror-symmetric duplicated ch ...... sical Down syndrome phenotype.
@en
P2093
P2860
P1476
Mirror-symmetric duplicated ch ...... sical Down syndrome phenotype.
@en
P2093
Avramopoulos D
Karadima G
Kennerknecht I
Petersen MB
P2860
P304
P356
10.1002/(SICI)1096-8628(20000313)91:2<116::AID-AJMG7>3.0.CO;2-Q
P577
2000-03-01T00:00:00Z