Literature DB >> 2585461

A new interstitial deletion of 4q (q21.1::q22.1).

K Fagan1, A Gill.   

Abstract

A unique case of de novo interstitial deletion of chromosome 4 is described involving loss of band q21. The male newborn had multiple abnormalities including frontal bossing, prominent occiput, low set ears, micrognathia, short sternum, short, broad hands and feet, agenesis of the corpus callosum, and cardiac defects. The phenotypic abnormalities are compared with other reported cases of deletion 4q involving adjacent regions.

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Year:  1989        PMID： 2585461      PMCID： PMC1015717          DOI： 10.1136/jmg.26.10.644

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


  15 in total

1.  Piebald trait in a retarded child with interstitial deletion of chromosome 4.

Authors:  Y Lacassie; T F Thurmon; M C Tracy; M Z Pelias
Journal:  Am J Hum Genet       Date:  1977-11       Impact factor: 11.025

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.  Interstitial deletion of the long arm of chromosome 4 in a patient with mental retardation and abnormal phenotype.

Authors:  M del Valle Torrado; J D Labarta; A M Migliorini
Journal:  J Med Genet       Date:  1982-12       Impact factor: 6.318

4.  The child with congenital anomalies and interstitial deletion of the long arm of chromosome 4.

Authors:  H Lech; J Kubalska; L Wisńiewski
Journal:  Klin Padiatr       Date:  1982-03       Impact factor: 1.349

5.  Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion.

Authors:  S J Funderburk; B F Crandall
Journal:  Am J Hum Genet       Date:  1974-11       Impact factor: 11.025

6.  Partial monosomy of long arm of chromosome 4 due to interstitial deletion.

Authors:  A McDermott; R Cain; R Howell
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

7.  Interstitial deletion 4q and Rieger syndrome.

Authors:  I Ligutić; L Brecević; I Petković; T Kalogjera; Z Rajić
Journal:  Clin Genet       Date:  1981-11       Impact factor: 4.438

8.  Pericentric inversion and partial monosomy 4q associated with congenital anomalies.

Authors:  F Serville; A Broustet
Journal:  Hum Genet       Date:  1977-11-10       Impact factor: 4.132

9.  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

10.  Deletion of a single chromosome band 4q26 in a malformed girl: exclusion of Rieger syndrome associated gene(s) from the 4q26 segment.

Authors:  T Motegi; K Nakamura; T Terakawa; A Oohira; K Minoda; K Kishi; Y Yanagawa; H Hayakawa
Journal:  J Med Genet       Date:  1988-09       Impact factor: 6.318
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  2 in total

1.  Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.

Authors:  Lynn Dukes-Rimsky; Gregory F Guzauskas; Kenton R Holden; Rachel Griggs; Sydney Ladd; Maria del Carmen Montoya; Barbara R DuPont; Anand K Srivastava
Journal:  Am J Med Genet A       Date:  2011-08-10       Impact factor: 2.802

Review 2.  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 in total

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