Literature DB >> 2614797

Del(4)(q33----qter): another case report of a child with mild dysmorphism.

K A Fagan1, R B Morris.   

Abstract

A male child is described with some growth and developmental delay and other minor dysmorphic features. Chromosome analysis showed a de novo deletion of the q33----qter terminal segment of a chromosome 4. There has been published discussion concerning the severity of phenotypic malformations in the seven cases described so far with this particular deletion. We add details of our patient to help to delineate further features of this syndrome.

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Mesh：

Year:  1989        PMID： 2614797      PMCID： PMC1015760          DOI： 10.1136/jmg.26.12.776

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  7 in total

1.  A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.

Authors:  R D Jefferson; J Burn; K L Gaunt; S Hunter; E V Davison
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

2.  Chromosome preparations of human whole blood lymphocytes: an improved technique.

Authors:  A I Ibraimov
Journal:  Clin Genet       Date:  1983-10       Impact factor: 4.438

3.  Pierre-Robin anomalad, moderate mental retardation and distal 4q deletion.

Authors:  J P Fryns; J Timmermans; J Hoedemaekers; L Emmery; H Van den Berghe
Journal:  Ann Genet       Date:  1981

4.  Deletion of chromosome 4q33 leads to qter. Is it different from 4q31 leads to qter deletion syndrome?

Authors:  M Tuchman; J Ebrahimi; R J Gorlin
Journal:  Am J Med Genet       Date:  1983-02

5.  Terminal deletion(4)(q33) in a male infant.

Authors:  J Stamberg; E W Jabs; E Elias
Journal:  Clin Genet       Date:  1982-02       Impact factor: 4.438

6.  Deletions of different segments of the long arm of chromosome 4.

Authors:  J A Mitchell; S Packman; W D Loughman; R M Fineman; E Zackai; S R Patil; B Emanual; J A Bartley; J W Hanson
Journal:  Am J Med Genet       Date:  1981

7.  Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33.

Authors:  D J Tomkins; A G Hunter; I A Uchida; M H Roberts
Journal:  Clin Genet       Date:  1982-12       Impact factor: 4.438
  7 in total
  3 in total

Review 1.  Toward the complete genomic map and molecular pathology of human chromosome 4.

Authors:  O Riess; B Winkelmann; J T Epplen
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132

2.  Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy.

Authors:  Mohammed Al-Owain; Namik Kaya; Hamad Al-Zaidan; Ibrahim Bin Hussain; Hadeel Al-Manea; Hindi Al-Hindi; Shelley Kennedy; M Anwar Iqbal; Hamad Al-Mojalli; Albandary Al-Bakheet; Anne Puel; Jean-Laurent Casanova; Saleh Al-Muhsen
Journal:  Clin Dev Immunol       Date:  2010-12-14

Review 3.  Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization.

Authors:  Zoe Papadopoulou; Ioannis Papoulidis; Stavros Sifakis; Georgios Markopoulos; Annalisa Vetro; Angeliki-Maria Vlaikou; Monica Ziegler; Thomas Liehr; Loretta Thomaidis; Orsetta Zuffardi; Maria Syrrou; Kitsos George; Emmanouil Manolakos
Journal:  Mol Med Rep       Date:  2017-10-10       Impact factor: 2.952
  3 in total

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