Literature DB >> 4045964

Interstitial deletion of chromosome 7p detected antenatally.

K Marks, L Hill, R G Chitham, W L Whitehouse.   

Abstract

An interstitial deletion in chromosome 7(p13p15) detected in amniotic fluid cells is presented. After termination, the fetus was noted to have an asymmetrical skull, low set ears, a flattened nose, bifid thumbs and right big toe, pyloric adenomyosis, hypospadias, and simian creases. A brief comparison is made with previously reported cases involving deletions of 7p, including those associated with craniosynostosis.

Entities:  

Mesh：

Year:  1985        PMID： 4045964      PMCID： PMC1049459          DOI： 10.1136/jmg.22.4.316

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


  2 in total

1.  Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities.

Authors:  M D Crawfurd; I Kessel; M Liberman; J A McKeown; P Y Mandalia; M A Ridler
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

2.  Chromosome 7 short-arm interstitial deletion (p14).

Authors:  S J Moedjono; S J Funderburk; R S Sparkes
Journal:  Hum Genet       Date:  1978-10-19       Impact factor: 4.132
  2 in total
  2 in total

Review 1.  Genetic markers on chromosome 7.

Authors:  L C Tsui
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

2.  Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

Authors:  Jennifer J Johnston; Isabelle Olivos-Glander; Christina Killoran; Emma Elson; Joyce T Turner; Kathryn F Peters; Margaret H Abbott; David J Aughton; Arthur S Aylsworth; Michael J Bamshad; Carol Booth; Cynthia J Curry; Albert David; Mary Beth Dinulos; David B Flannery; Michelle A Fox; John M Graham; Dorothy K Grange; Alan E Guttmacher; Mark C Hannibal; Wolfram Henn; Raoul C M Hennekam; Lewis B Holmes; H Eugene Hoyme; Kathleen A Leppig; Angela E Lin; Patrick Macleod; David K Manchester; Carlo Marcelis; Laura Mazzanti; Emma McCann; Marie T McDonald; Nancy J Mendelsohn; John B Moeschler; Billur Moghaddam; Giovanni Neri; Ruth Newbury-Ecob; Roberta A Pagon; John A Phillips; Laurie S Sadler; Joan M Stoler; David Tilstra; Catherine M Walsh Vockley; Elaine H Zackai; Touran M Zadeh; Louise Brueton; Graeme Charles M Black; Leslie G Biesecker
Journal:  Am J Hum Genet       Date:  2005-02-28       Impact factor: 11.025
  2 in total

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