Literature DB >> 9350824

Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions.

A Slavotinek1, H Kingston.   

Abstract

We report a 6 year old child with a small de novo interstitial deletion of proximal 4q, karyotype 46,XX,del(4)(pter-->q12::q13.1-->qter). She has made good developmental progress and attends normal school with minimal assistance. We review published reports and clinical findings in patients with proximal 4q deletions.

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Mesh：

Year:  1997        PMID： 9350824      PMCID： PMC1051098          DOI： 10.1136/jmg.34.10.862

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


  16 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.  Tentative assignment of piebald trait gene to chromosome band 4q12.

Authors:  J J Hoo; R H Haslam; C van Orman
Journal:  Hum Genet       Date:  1986-07       Impact factor: 4.132

3.  B-F chromosome translocation associated with father-child incompatibility within the Gc-system.

Authors:  K Henningsen; P Jacobsen; M Mikkelsen
Journal:  Hum Hered       Date:  1969       Impact factor: 0.444

Review 4.  Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes.

Authors:  A E Lin; K L Garver; G Diggans; M Clemens; S L Wenger; M W Steele; M C Jones; J Israel
Journal:  Am J Med Genet       Date:  1988-11

Review 5.  A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4.

Authors:  M H Beall; R E Falk; K L Ying
Journal:  Am J Med Genet       Date:  1988-11

6.  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

7.  [Monosomy/trisomy 4q12 to q13 mosaicism in a retarded and dysmorphic girl].

Authors:  G Pescia; A Tonella; M Jotterand-Bellomo
Journal:  Ann Genet       Date:  1982

8.  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

Review 9.  Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis.

Authors:  D H Ledbetter; E Engel
Journal:  Hum Mol Genet       Date:  1995       Impact factor: 6.150

10.  Possible localization of Gc-System on chromosome 4. Loss of long arm 4 material associated with father-child incompatibility within the Gc-System.

Authors:  M Mikkelsen; P Jacobsen; K Henningsen
Journal:  Hum Hered       Date:  1977       Impact factor: 0.444
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