The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis (Q41234841)

28 September 2017

title

The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis (English)

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28 September 2017

E Therman

1

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28 September 2017

B Susman

series ordinal

2

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28 September 2017

publication date

1 July 1990

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28 September 2017

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28 September 2017

volume

85

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28 September 2017

issue

2

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28 September 2017

page(s)

175-183

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Partial long arm deletion of one X chromosome in a patient with secondary amenorrhea

28 September 2017

cites work

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12 December 2020

Deletion mapping of the human X chromosome

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12 December 2020

Clinical and cytogenetic variations of gonadal dysgenesis in 3 patients

1 reference

12 December 2020

X short arm deletion and Turner syndrome. A new case 46, X, del (X) (p11) (author's transl)

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12 December 2020

X long arm deletion with oligomenorrhoea.

1 reference

12 December 2020

Replication patterns of three isodicentric X chromosomes and an X isochromosome in human lymphocytes

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12 December 2020

Isodicentric X Chromosome in a Girl With Gonadal Dysgenesis

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12 December 2020

Structural X-chromosome abnormality in a female with gonadal dysgenesis

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12 December 2020

Clinical and cytogenetic aspects of X-chromosome deletions

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12 December 2020

X short arm deletion in a female subject with spontaneous sexual development

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12 December 2020

Long arm deletions of the X chromosome and their symptoms: a new case (bp q24) and a short review of the literature.

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12 December 2020

DNA methylation stabilizes X chromosome inactivation in eutherians but not in marsupials: evidence for multistep maintenance of mammalian X dosage compensation

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12 December 2020

Gonadal dysgenesis and X chromosome deletion. Case reports

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12 December 2020

Oocyte development in XO foetuses of man and mouse: the possible role of heterologous X-chromosome pairing in germ cell survival

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12 December 2020

DNA replication sequence in a dicentric (functionally monocentric) X chromosome formed by the joining of two X chromosomes at region p22

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12 December 2020

Position of the human X inactivation center on Xq

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12 December 2020

[Morphologically abnormal X-chromosomes]

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12 December 2020

Abnormal X chromosomes in man: Origin, behavior and effects

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12 December 2020

Premature menopause due to a small deletion in the long arm of the X chromosome: a report of three cases and a review

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12 December 2020

[Karyotype-phenotype correlation in a 46,Xdel(X) (p22) diagnosis (author's transl)].

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12 December 2020

X/X translocation in a girl with gonadal dysgenesis

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12 December 2020

Long arm deletion of the X chromosome, 46,X,del(xX)(q21), associated with gonadoblastoma

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12 December 2020

A second example of telomeric fusion 2 X chromosomes

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12 December 2020

Cytologic evidence for three human X-chromosomal segments escaping inactivation

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12 December 2020

Ullrich-Turner syndrome associated with interstitial deletion of Xp11.4 leads to p22.31

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12 December 2020

[Partial deletion of the short arm of an X chromosome]

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12 December 2020

Secondary amenorrhea with deletion of the short arm of the X chromosome (46 XXp-): a case report

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12 December 2020

Turner syndrome with partial deletion of the X chromosome long arm

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12 December 2020

Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease

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12 December 2020

Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

1 reference

12 December 2020

The origin of telocentric chromosomes in man: A girl with tel(Xq)

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12 December 2020

Structure and Barr body formation of an Xp + chromosome with two inactivation centers

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12 December 2020

On a case of XXdc ovarian dysgenesis

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12 December 2020

The various phenotypes in Xp deletion. Observations in eleven patients

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12 December 2020

Two cases of primary amenorrhea with deletion of the long arm of the X chromosome (46, XXq−)

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12 December 2020

Isodicentric X chromosome in a moderately tall patient with gonadal dysgenesis: lack of effect of functional centromere on inactivation pattern.

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12 December 2020

Short arm deletion of an X chromosome, 46,XXp-

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12 December 2020

A case of long arm deletion of the X chromosome in a patient with secondary amenorrhea

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12 December 2020

[Gonadal dysgenesis due to partial delection of an X chromosome]

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12 December 2020

Increased Q fluorescence of an inactive Xq-chromosome in man

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12 December 2020

Derepression with decreased expression of the G6PD locus on the inactive X chromosome in normal human cells

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12 December 2020

[46, XXip karyotype in a woman with normal stature and gonadal dysgenesis without other congenital anomalies]

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12 December 2020

Cytogenetic and clinical studies in gonadal dysgenesis with 46,X,Xt(qter leads to p221::p223 leads to qter) karyotype: review and phenotype/karyotype correlations

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12 December 2020

Structural anomalies of the X chromosome and inactivation center

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12 December 2020

Primary amenorrhea and short arm deletion of the X chromosome, 46,X,del(Xp). Report of two cases

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12 December 2020

Structural anomalies of the X chromosome: personal observation and review of non-mosaic cases.

1 reference

12 December 2020

[Gonadal dysgenesis caused by deletion of the long arms of an X cromosome]

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12 December 2020

Gonadal dysgenesis in phenotypic female subjects. A review of eighty-seven cases, with cytogenetic studies in fifty-three

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12 December 2020

Differential expression of steroid sulphatase locus on active and inactive human X chromosome

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12 December 2020

Replication and inactivation of a dicentric X formed by telomeric fusion

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12 December 2020

Isochromosome for the Short Arm of X with Primary Amenorrhoea and a Pituitary Tumour

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12 December 2020

Familial Turner syndrome

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12 December 2020

X long-arm deletions. A review of non-mosaic cases studied with banding techniques

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12 December 2020

X-short arm deletion gonadal dysgenesis in two siblings due to unique translocation (Xp-;16p+)

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12 December 2020

A previously unreported, dominantly inherited syndrome of shortness of stature, ear malformations, and hip dislocation: the coxoauricular syndrome--autosomal or X-linked male-lethal.

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12 December 2020

The steroid sulfatase locus on structurally abnormal inactive X chromosomes is expressed.

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12 December 2020

Clinical features of a patient with 46, XXq- and genetic inactivaiton of the X chromosome

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12 December 2020

A teen-ager with 46,X,del(X)(q21)

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12 December 2020

Premeiotic and early meiotic stages in the pollen mother cells of Eremurus and in human embryonic oocytes

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12 December 2020

Chromosomal Abnormalities and Short Stature in Gonadal Dysgenesis

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12 December 2020

Perinatal oocyte loss in XO mice and its implications for the aetiology of gonadal dysgenesis in XO women

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12 December 2020

Replication and inactivation of an isodicentric X: presence of an inactive centromere influences the replication patterns

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12 December 2020

X LONG-ARM DELETION WITH FEATURES OF TURNER'S SYNDROME

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12 December 2020

A possible active segment on the inactive human X chromosome

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12 December 2020

X inactivation in man: a woman with t(Xq--;12q+)

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12 December 2020

Xq- Turner's syndrome: reconsideration of hypothesis that Xp- causes somatic features in Turner's syndrome

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12 December 2020

Isochromosome for the short arm of X, a human 46, XXpi syndrome

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12 December 2020

Primary amenorrhoea. A study with special reference to the morphology of the genital organs

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12 December 2020

Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations

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12 December 2020

Reduced fertility in women with X chromosome abnormality

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12 December 2020

Apparently isodicentric but functionally monocentric X chromosome in man.

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12 December 2020

Complete deletion of long arm of X chromosome in woman without Turner syndrome

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12 December 2020

X deletion and primary amenorrhoea

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12 December 2020

Partial short arm deletion of the X chromosome 46,X,del(X)(qter = to p21:)

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12 December 2020

Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome

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12 December 2020

Duplication Deficiency of an X-Chromosome with and Without 45,X Mosaicism in Three Girls — Cytogenetic, Clinical, and Hormonal Findings

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12 December 2020

The possible role of meiotic pairing anomalies in the atresia of human fetal oocytes

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12 December 2020

A gene controlling H-Y antigen on the X chromosome. Tentative assignment by deletion mapping to Xp223

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12 December 2020

Short arm deletion of an X chromosome in a 19-year-old girl

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12 December 2020

Somatic stigmata of Turner's syndrome in a patient with 46,XXq-

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12 December 2020

An abnormal large human chromosome identified as an end-to-end fusion of two X's by combined results of the new banding techniques and microdensitometry.

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12 December 2020

BrdU-33258 Hoechst analysis of DNA replication in human lymphocytes with supernumerary or structurally abnormal X chromosomes

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12 December 2020

Pairing of X and Y chromosomes, non-inactivation of X-linked genes, and the maleness factor

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12 December 2020

Gonadal and statural determinants on the X chromosome and their relationship to in vitro studies showing prolonged cell cycles in 45,X; 46,X,del(X)(p11); 46,X,del(X)(q13); and 46,X,del(X)(q22) fibroblasts

1 reference

12 December 2020

Turner syndrome with rare karyotypes

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12 December 2020

Letter: Turner's syndrome and long-arm deletions of X chromosome

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12 December 2020

Partial deletion of the X chromosome in gonadal dysgenesis 46,X,del(X)(p22) identified by BudR treatment

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12 December 2020

Center for Barr body condensation on the proximal part of the human Xq: a hypothesis

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12 December 2020

Fluorescence and autoradiographic studies in patients with Turner's syndrome and 46,XXp- and 46,XXq- karyotypes

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12 December 2020

Inherited interstitial del(Xp) with minimal clinical consequences: with a note on the location of genes controlling phenotypic features

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12 December 2020

Chromosomal and clinical findings in 110 females with Turner syndrome

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12 December 2020

The phenotypic effects of small, distal Xq deletions

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12 December 2020

Further dicentric X isochromosomes and deletions, and a new structure i(X)(pter to q2102 to pter)

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12 December 2020

Evidence that the Xg locus is inactivated in structurally abnormal X chromosomes

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12 December 2020

Women heterozygous for deficiency of the (p21 ? pter) region of the X chromosome are fertile

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12 December 2020

X chromosome constitution and the human female phenotype

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12 December 2020

Fertility in patients with X chromosome deletions

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12 December 2020

Partial short arm deletions of the X chromosome and spontaneous pubertal development in girls with short stature

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12 December 2020

Spontaneous cell fusion and PCC formation in Bloom's syndrome

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12 December 2020

Fertility with deletion Xq25: report of three cases; possible exceptions for critical region hypothesis

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12 December 2020

An abnormal dicentric X chromosome in a patient with short stature and gonadal dysgenesis

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12 December 2020

A chromosome survey of a hospital for the mentally subnormal. 1. Sex chromosome abnormalities

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12 December 2020

Familial x/x translocation: t(x;x)(p22;q13)

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12 December 2020

Brief clinical report: del(X) (q26) in a phenotypically normal woman and her daughter who also has trisomy 21.

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12 December 2020

Segregation after mitotic crossing-over in isodicentric X chromosomes

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12 December 2020

Replication kinetics of X chromosomes in fibroblasts and lymphocytes

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12 December 2020

Identifiers

DOI

10.1007/BF00193192

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Dimensions Publication ID

28 September 2017

1014474013

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