Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation.
about
Microsatellite analysis in Turner syndrome: Parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomesThree patients with ring (X) chromosomes and a severe phenotype.A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients.Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes.Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.A familial Xp+ chromosome, dup (Xq26.3-->qter).Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.Social, communicational, and behavioral deficits associated with ring X turner syndrome.Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlationsThe severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation.Unique case reports associated with ovarian failure: necessity of two intact x chromosomesDeficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes.Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement.The cognitive phenotype of Turner syndrome: Specific learning disabilitiesKabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression.PCR-PRINS-FISH analysis of structurally abnormal sex chromosomes in eight patients with Turner phenotype.Psychological aspects of Turner syndrome.Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome.X chromosome inactivation and X-linked mental retardation.Psychological characteristics of Turner syndrome.Sex chromosome markers: characterization using fluorescence in situ hybridization and review of the literature.Karyotype-phenotype correlation in females with X chromosome abnormalities.A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.Discriminant analysis of the Ullrich-Turner syndrome neurocognitive profile.Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST.Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay.Small supernumerary ring X chromosome in a four-month-old girl.
P2860
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P2860
Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation.
description
1992 nî lūn-bûn
@nan
1992 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Ullrich-Turner syndrome with a ...... resence of mental retardation.
@ast
Ullrich-Turner syndrome with a ...... resence of mental retardation.
@en
type
label
Ullrich-Turner syndrome with a ...... resence of mental retardation.
@ast
Ullrich-Turner syndrome with a ...... resence of mental retardation.
@en
prefLabel
Ullrich-Turner syndrome with a ...... resence of mental retardation.
@ast
Ullrich-Turner syndrome with a ...... resence of mental retardation.
@en
P2093
P356
P1476
Ullrich-Turner syndrome with a ...... resence of mental retardation.
@en
P2093
Roberson JR
Van Dyke DL
Worsham MJ
P304
P356
10.1002/AJMG.1320430617
P577
1992-08-01T00:00:00Z