Literature DB >> 4075566

Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1----p22).

J P Fryns, A Kleczkowska, A M Dereymaker, M Hoefnagels, G Heremans, J Marien, H van den Berghe.   

Abstract

A 24-year-old female with severe mental retardation, congenital malformations and dysmorphic features is described. 8p trisomy due to a de novo inv dup(8) (p21.1----p22) was found in her karyotype. Other published cases with 8p trisomy are reviewed.

Entities:  

Mesh：

Year:  1985        PMID： 4075566     DOI： 10.1111/j.1399-0004.1985.tb00424.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  5 in total

1.  Trisomy 8p: unusual origin detected by fluorescence in situ hybridization.

Authors:  C M Moore; K Barnum; C I Kaye; K S Kagan-Hallett; J C Liang
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

2.  Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase.

Authors:  N C Nevin; P J Morrison; J Jones; M M Reid
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

3.  Familial partial trisomy 8p without dysmorphic features and only mild mental retardation.

Authors:  J J Engelen; C E de Die-Smulders; J M Sijstermans; L E Meers; J C Albrechts; A J Hamers
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

4.  Partial trisomy of short arm of chromosome 8 (46,XY, inv dup (8) (p21-->pter) in a Bedouin child with multiple congenital anomalies and mental retardation.

Authors:  A A Redha; D S Murthy; H Kandil; T I Farag; R Usha; S A al-Awadi; L A Jeryan; K al-Nagdy; M el-Ghanem
Journal:  Indian J Pediatr       Date:  1994 May-Jun       Impact factor: 1.967

5.  D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p).

Authors:  A Minelli; G Floridia; E Rossi; M Clementi; R Tenconi; L Camurri; F Bernardi; H Hoeller; C Previde Re; P Maraschio
Journal:  Hum Genet       Date:  1993-10       Impact factor: 4.132
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.