Literature DB >> 1087853

Duplication-deficiency of the short arm of chromosome 8 following artificial insemination.

R G Weleber, R S Verma, W J Kimberling, H G Fieger, H A lubs.   

Abstract

A chromosomally abnormal child with psychomotor retardation and multiple anomalies, including agenesis of the corpus callosum and cleft palate, was born following artificial insemination by donor. Chromosomal and conventional markers were used to ascertain paternity. Various banding techniques were employed to identify the origin of the extra chromosomal material as most likely a duplication-deficiency of the short arm of chromosome No. 8.

Entities:  

Keywords:  Artificial Insemination; Case Studies; Chromosome Abnormalities; Congenital Abnormalities; Diseases; Neonatal Diseases And Abnormalities; Reproduction; Reproductive Technologies; Research Methodology; Studies

Mesh：

Year:  1976        PMID： 1087853

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  16 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.  Trisomy 8p due to the 3:1 segregation of the balanced translocation t(8;15)mat.

Authors:  G I Lazjuk; I W Lurie; Y I Usova; D B Gurevich; M K Nedzved
Journal:  Hum Genet       Date:  1979-02-15       Impact factor: 4.132

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

Review 4.  Absence makes the search grow longer.

Authors:  W B Dobyns
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

5.  Clinical, enzyme, and cytogenetic investigations in three new cases of trisomy 8p.

Authors:  J F Mattei; M G Mattei; J P Ardissone; J Coignet; F Giraud
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

6.  Inverted Duplication and Deletion of 10q25q26 in a Patient without Any Obvious Skeletal Anomalies.

Authors:  B Xiao; X Ji; Y Xing; W-T Jiang; J-M Zhang; J Tao
Journal:  Mol Syndromol       Date:  2012-09-27

7.  Genomic profile of copy number variants on the short arm of human chromosome 8.

Authors:  Shihui Yu; Stephanie Fiedler; Andrew Stegner; William D Graf
Journal:  Eur J Hum Genet       Date:  2010-05-12       Impact factor: 4.246

8.  Absent right atrioventricular connection and double-inlet ventricle due to an unbalanced familial 8:13 chromosome translocation: a cautionary tale.

Authors:  J Burn; M Baraitser; D T Hughes; P Saldana-Garcia; J F Taylor
Journal:  Pediatr Cardiol       Date:  1984 Jan-Mar       Impact factor: 1.655

9.  Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

Authors:  Margaret J Wat; Oleg A Shchelochkov; Ashley M Holder; Amy M Breman; Aditi Dagli; Carlos Bacino; Fernando Scaglia; Roberto T Zori; Sau Wai Cheung; Daryl A Scott; Sung-Hae Lee Kang
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802

10.  Clinical and genomic characterization of 8p cytogenomic disorders.

Authors:  Volkan Okur; Laura Hamm; Haluk Kavus; Caroline Mebane; Scott Robinson; Brynn Levy; Wendy K Chung
Journal:  Genet Med       Date:  2021-07-19       Impact factor: 8.822
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