Literature DB >> 500091

Presumptive long arm deletion of chromosome 8: a new syndrome?

K Taysi, M J Noetzel, A W Strauss.   

Abstract

This communication describes an infant with growth and psychomotor retardation and severe congenital malformations, who was found to have an interstitial deletion of the long arm of chromosome 8: 46,XY,del(8) (q13q22). Comparison with the only other previously reported patient with a deletion of a similar chromosomal segment suggested that deletion of the long arm of chromosome 8 may constitute a clinically recognizable syndrome.

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Year:  1979        PMID： 500091     DOI： 10.1007/bf00278291

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


  2 in total

1.  Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213).

Authors:  B Dallapiccola; L Santoro; S Trabace; M Ramenghi; P Mastroiacovo; E Gandini
Journal:  Hum Genet       Date:  1977-09-22       Impact factor: 4.132

2.  Small structural changes of chromosome 8. Two cases with evidence for deletion.

Authors:  C Beighle; L E Karp; J W Hanson; J G Hall; H Hoehn
Journal:  Hum Genet       Date:  1977-08-31       Impact factor: 4.132
  2 in total
  7 in total

1.  Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?

Authors:  E M Bühler; U K Bühler; R Christen
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

2.  Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23.

Authors:  C Turleau; F Chavin-Colin; J de Grouchy; P Maroteaux; H Rivera
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

3.  "Microcytogenetics" and Langer-Giedion syndrome.

Authors:  M Frontali; M Ramenghi; S Trabace; B Dallapiccola
Journal:  J Med Genet       Date:  1982-10       Impact factor: 6.318

4.  Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

Authors:  María Palomares; Alicia Delicado; Elena Mansilla; María Luisa de Torres; Elena Vallespín; Luis Fernandez; Victor Martinez-Glez; Sixto García-Miñaur; Julián Nevado; Fernando Santos Simarro; Victor L Ruiz-Perez; Sally Ann Lynch; Freddie H Sharkey; Ann-Charlotte Thuresson; Göran Annerén; Elga F Belligni; María Luisa Martínez-Fernández; Eva Bermejo; Beata Nowakowska; Anna Kutkowska-Kazmierczak; Ewa Bocian; Ewa Obersztyn; María Luisa Martínez-Frías; Raoul C M Hennekam; Pablo Lapunzina
Journal:  Am J Hum Genet       Date:  2011-07-28       Impact factor: 11.025

5.  Complex translocation in a boy with trichorhinophalangeal syndrome.

Authors:  L M Sánchez; J D Labarta; T C De Negrotti; A M Migliorini
Journal:  J Med Genet       Date:  1985-08       Impact factor: 6.318

6.  Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8.

Authors:  D V Zaletajev; G S Marincheva
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

7.  Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46, XY or XX, del (8) (q23.3q24.13).

Authors:  Y Fukushima; Y Kuroki; T Izawa
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132
  7 in total

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