Literature DB >> 3617217

[Del(1)(q22-q25) syndrome. Cytogenetics and phenotype].

D V Zaletaev, E L Dadali, N P Kuleshov.   

Abstract

A male infant is described with dysmorphology of the head and face, neck, extremities and genitalia, as well as growth and mental retardation and with the de novo interstitial deletion of the proximal segment of the long arm of chromosome 1-del (1) (q22-q25). Comparison of the phenotypic characteristics of this patient with those of previously described patients with similar deletion confirms the existence of the proximal 1q deletion syndrome.

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Mesh:

Year:  1987        PMID: 3617217

Source DB:  PubMed          Journal:  Tsitol Genet        ISSN: 0564-3783


  3 in total

1.  Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1.

Authors:  D Melis; L Perone; M P Sperandeo; M S Sabbatino; M R Tuzzi; A Romano; G Parenti; G Andria
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

2.  Molecular characterization of a patient with del(1)(q23-q25).

Authors:  B Franco; L W Lai; D Patterson; D H Ledbetter; B J Trask; G van den Engh; S Iannaccone; S Frances; P I Patel; J R Lupski
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

3.  Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.

Authors:  Deepika D'Cunha Burkardt; Jill A Rosenfeld; Maria L Helgeson; Brad Angle; Valerie Banks; Wendy E Smith; Karen W Gripp; Jessica Moline; Rocio T Moran; Dmitriy M Niyazov; Cathy A Stevens; Elaine Zackai; Robert Roger Lebel; Douglas G Ashley; Nancy Kramer; Ralph S Lachman; John M Graham
Journal:  Am J Med Genet A       Date:  2011-05-05       Impact factor: 2.802

  3 in total

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