Literature DB >> 527976

X pentasomy: a case and review.

N Archidiacono, M Rocchi, M Valente, G Filippi.   

Abstract

A 49,XXXXX girl is reported. The most typical features of the patient are: severe mental retardation, serious dental anomalies, various anomalies of the bones, and a high rate of gonadotropins. The few similar cases so far described are reviewed to aid in delineation of this rare syndrome. The implications of Lyon's hypothesis on X-aneuploidies are also discussed.

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Year:  1979        PMID： 527976     DOI： 10.1007/BF00284599

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


  29 in total

1.  [49, XXXXX chromosome equipment in a girl with psychophysical underdevelopment].

Authors:  M L Giovannucci-Uzielli; F Torricelli; Q Salvatori; I Consumi; G P Donzelli; S Seminara
Journal:  Minerva Pediatr       Date:  1975-12-29       Impact factor: 1.312

2.  Comparison of cell cycle time in normal and trisomic cells.

Authors:  G R Paton; M F Silver; A C Allison
Journal:  Humangenetik       Date:  1974

3.  Abnormal X chromosomes in man: origin, behavior and effects.

Authors:  E Therman; K Patau
Journal:  Humangenetik       Date:  1974

4.  The influence of inactive chromosomes on human development. Anomalous sex chromosome complements and the phenotype.

Authors:  P Barlow
Journal:  Humangenetik       Date:  1973

5.  XXXX syndrome: case report, and a note on genetic counselling and fertility.

Authors:  R J Gardner; A M Veale; V E Sands; M D Holdaway
Journal:  Humangenetik       Date:  1973

6.  Two functional X chromosomes in human fetal oocytes.

Authors:  S M Gartler; R M Liskay; N Gant
Journal:  Exp Cell Res       Date:  1973-12       Impact factor: 3.905

7.  48,XXXX-49,XXXXX mosaic: asynchronies among the late-replicating X chromosomes.

Authors:  N Ricci; B Dallapiccola; B Ventimiglia; L Tiepolo; M Fraccaro
Journal:  Cytogenetics       Date:  1968

8.  Mitotic cycles in human cell strains with sex chromosomes aneuploidy.

Authors:  V I Kukharenko; K N Grinberg; A M Kuliev
Journal:  Hum Genet       Date:  1978-06-09       Impact factor: 4.132

9.  Taurodontism and enamel hypomaturation associated with X-linked abnormalities.

Authors:  J P Gage
Journal:  Clin Genet       Date:  1978-09       Impact factor: 4.438

10.  Epiphysial dysplasia: a constant finding in the XXXXY syndrome.

Authors:  R Schmidt; M Pajewski; M Rosenblatt
Journal:  J Med Genet       Date:  1978-08       Impact factor: 6.318
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  4 in total

1.  Genes controlling gp25/30 cell-surface molecules map to chromosomes X and Y and escape X-inactivation.

Authors:  N C Dracopoli; W J Rettig; A P Albino; D Esposito; N Archidiacono; M Rocchi; M Siniscalco; L J Old
Journal:  Am J Hum Genet       Date:  1985-01       Impact factor: 11.025

2.  Kinetics of DNA replication in a dicentric X chromosome formed by long arm to long arm fusion.

Authors:  C W Yu; H Chen; J Morrison
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

3.  A new case of prenatally diagnosed pentasomy x: review of the literature.

Authors:  Linda Maria Azzurra Pirollo; Leila Baghernajad Salehi; Simona Sarta; Marco Cassone; Maria Vittoria Capogna; Emilio Piccione; Giuseppe Novelli; Adalgisa Pietropolli
Journal:  Case Rep Obstet Gynecol       Date:  2015-01-29

4.  Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy.

Authors:  Lucia M Moraes; Leila Ca Cardoso; Vera Ls Moura; Miguel Am Moreira; Albert N Menezes; Juan C Llerena; Héctor N Seuánez
Journal:  Mol Cytogenet       Date:  2009-10-07       Impact factor: 2.009
  4 in total

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