Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation.
about
Partial Xp duplication in a girl with dysmorphic features: the change in replication pattern of late-replicating dupX chromosome.Autism in two females with duplications involving Xp11.22-p11.23.A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33).Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment.Functional disomy of Xp including duplication ofDAX1gene with sex reversal due to t(X;Y)(p21.2;p11.3)
P2860
Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation.
description
2000 nî lūn-bûn
@nan
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
2000年论文
@zh
2000年论文
@zh-cn
name
Molecular cytogenetic analysis ...... ype and random X inactivation.
@en
type
label
Molecular cytogenetic analysis ...... ype and random X inactivation.
@en
prefLabel
Molecular cytogenetic analysis ...... ype and random X inactivation.
@en
P2093
P1433
P1476
Molecular cytogenetic analysis ...... type and random X inactivation
@en
P2093
H Castaing
J L Taillemite
J Stephann
M F Portnoï
P304
P356
10.1034/J.1399-0004.2000.580205.X
P577
2000-08-01T00:00:00Z