Literature DB >> 1002163

Chromosomal and clinical findings in 110 females with Turner syndrome.

C G Palmer, A Reichmann.   

Abstract

One hundred and ten patients with abnormal karyotypes who were referred to the Department of Medical Genetics with the possible diagnosis of Turner syndrome were reviewed. The frequency of chromosomal abnormalities and clinical findings in the different chromosomal types are summarized.

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Year:  1976        PMID： 1002163     DOI： 10.1007/bf00295617

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  17 in total

Review 1.  Gonadal dysgenesis and abnormalities of the human sex chromosomes: current status of phenotypic-karyotypic correlations.

Authors:  J L Simpson
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  CLINICAL AND CYTOGENETICAL STUDIES IN FEMALE GONADAL DYSGENESIS AND THEIR BEARING ON THE CAUSE OF TURNER'S SYNDROME.

Authors:  M A FERGUSON-SMITH; D S ALEXANDER; P BOWEN; R M GOODMAN; B N KAUFMANN; H W JONES; R H HELLER
Journal:  Cytogenetics       Date:  1964

Review 3.  KARYOTYPE-PHENOTYPE CORRELATIONS IN GONADAL DYSGENESIS AND THEIR BEARING ON THE PATHOGENESIS OF MALFORMATIONS.

Authors:  M A FERGUSON-SMITH
Journal:  J Med Genet       Date:  1965-06       Impact factor: 6.318

4.  The high incidence of diabetes mellitus in 41 patients with gonadal dysgenesis, and their close relatives.

Authors:  A P FORBES; E ENGEL
Journal:  Metabolism       Date:  1963-05       Impact factor: 8.694

5.  Cytogenetic studies in primary amenorrhoea.

Authors:  P A JACOBS; D G HARNDEN; K E BUCKTON; W M BROWN; M J KING; J A McBRIDE; T N MACGREGOR; N MACLEAN
Journal:  Lancet       Date:  1961-06-03       Impact factor: 79.321

6.  Classic pages in obstetrics and gynecology by Henry H. Turner. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology, vol. 23, pp. 566-574, 1938.

Authors: 
Journal:  Am J Obstet Gynecol       Date:  1972-05-15       Impact factor: 8.661

7.  Cytogenetic findings in 89 cases of Turner's syndrome with abnormal karyotypes.

Authors:  W Schmid; E Naef; G Mürset; A Prader
Journal:  Humangenetik       Date:  1974

8.  Dicentric human X chromosomes.

Authors:  A De la Chapelle; K Stenstrand
Journal:  Hereditas       Date:  1974       Impact factor: 3.271

9.  [Clinical and cytogenetic correlations in Turner's syndrome].

Authors:  R Walbaum
Journal:  Lille Med       Date:  1973-04

10.  Differences in human X isochromosomes.

Authors:  J H Priest; R D Blackston; K S Au; S L Ray
Journal:  J Med Genet       Date:  1975-12       Impact factor: 6.318
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  31 in total

1.  Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.

Authors:  Stuart A Scott; Ninette Cohen; Tracy Brandt; Peter E Warburton; Lisa Edelmann
Journal:  Hum Mol Genet       Date:  2010-06-22       Impact factor: 6.150

2.  Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?

Authors:  K R Held; S Kerber; E Kaminsky; S Singh; P Goetz; E Seemanova; H W Goedde
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

3.  Pericentromeric structure of human X "isochromosomes": evidence for molecular heterogeneity.

Authors:  C B Sharp; H M Bedford; H F Willard
Journal:  Hum Genet       Date:  1990-08       Impact factor: 4.132

4.  Failed gene conversion leads to extensive end processing and chromosomal rearrangements in fission yeast.

Authors:  Helen Tinline-Purvis; Andrew P Savory; Jason K Cullen; Anoushka Davé; Jennifer Moss; Wendy L Bridge; Samuel Marguerat; Jürg Bähler; Jiannis Ragoussis; Richard Mott; Carol A Walker; Timothy C Humphrey
Journal:  EMBO J       Date:  2009-10-01       Impact factor: 11.598

5.  Characterization of chromatin at structurally abnormal inactive X chromosomes reveals potential evidence of a rare hybrid active and inactive isodicentric X chromosome.

Authors:  Brian P Chadwick
Journal:  Chromosome Res       Date:  2019-11-27       Impact factor: 5.239

6.  FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.

Authors:  George Koumbaris; Hariklia Hatzisevastou-Loukidou; Angelos Alexandrou; Marios Ioannides; Christodoulos Christodoulou; Tomas Fitzgerald; Diana Rajan; Stephen Clayton; Sophia Kitsiou-Tzeli; Joris R Vermeesch; Nicos Skordis; Pavlos Antoniou; Ants Kurg; Ioannis Georgiou; Nigel P Carter; Philippos C Patsalis
Journal:  Hum Mol Genet       Date:  2011-02-24       Impact factor: 6.150

7.  A case of Turner's syndrome, with apparently normal sex chromatin and chromosome findings.

Authors:  M G Butler; C T Todd; J D Eisen
Journal:  Nebr Med J       Date:  1979-05

8.  A mosaic 45,X/46,X,r(?) karyotype investigated with X and Y centromere-specific probes using a non-autoradiographic in situ hybridization technique.

Authors:  J A Crolla; J C Llerena
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

9.  Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation.

Authors:  D J Wolff; A P Miller; D L Van Dyke; S Schwartz; H F Willard
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

10.  Mortality ratios, life expectancy, and causes of death in patients with Turner's syndrome.

Authors:  W H Price; J F Clayton; S Collyer; R De Mey; J Wilson
Journal:  J Epidemiol Community Health       Date:  1986-06       Impact factor: 3.710
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