Literature DB >> 3781561

Chromosome 7 short arm deletion, 7p21----pter.

M Schömig-Spingler, M Schmid, W Brosi, T Grimm.   

Abstract

A case report of a de novo deletion in the short arm of chromosome 7 is presented (46,XX,del(7)(p21----pter)). The five-month-old girl's major symptoms are: trigonocephalus with craniosynostosis, median bony forehead bulge, high palate, atrial septal defect, anal atresia and perineal fistula, thumb insertion far to ulnar-proximal, and a slightly retarded psychomotor development. The other cases with monosomy 7p described in the literature are reviewed.

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Year:  1986        PMID： 3781561     DOI： 10.1007/bf00282559

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  17 in total

1.  A simple method for R banding of human chromosomes, showing a pH-dependent connection between R and G bands.

Authors:  J Sehested
Journal:  Humangenetik       Date:  1974-01-22

2.  Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15 leads to 7p21.

Authors:  M Miller; G Kaufman; G Reed; R Bilenker; A Schinzel
Journal:  Am J Med Genet       Date:  1979

3.  A patient with interstitial deletion 7 (p13 leads to p21).

Authors:  U Müller; F Staudt; H Hameister
Journal:  Ann Genet       Date:  1981

4.  Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7.

Authors:  E J Winsor; C G Palmer; P M Ellis; J L Hunter; M A Ferguson-Smith
Journal:  Cytogenet Cell Genet       Date:  1978

5.  Ring chromosome 7 with variable phenotypic expression.

Authors:  E H Zackai; W R Breg
Journal:  Cytogenet Cell Genet       Date:  1973

6.  Terminal 7p deletion and 1;7 translocation associated with craniosynostosis.

Authors:  R K Dhadial; M F Smith
Journal:  Hum Genet       Date:  1979-09       Impact factor: 4.132

7.  A girl with karyotype 46,XX,del(7)(qter-p 15:).

Authors:  U Friedrich; T Lyngbye; J Oster
Journal:  Humangenetik       Date:  1975

8.  Hemihypotrophy in a girl with a translocation t(13q;7p).

Authors:  F A Marçallo; L C Werneck; R F Pilotto; J M Opitz
Journal:  Eur J Pediatr       Date:  1977-02-21       Impact factor: 3.183

9.  De novo partial 2q3 trisomy/distal 7p22 monosomy in a malformed newborn with 7p deletion phenotype and craniosynostosis.

Authors:  J P Fryns; M Haspeslagh; A Agneessens; H van den Berghe
Journal:  Ann Genet       Date:  1985

10.  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
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  10 in total

Review 1.  Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature.

Authors:  Beate Schmidt; Floris Udink ten Cate; Michael Weiss; Udo Koehler
Journal:  Eur J Pediatr       Date:  2012-07       Impact factor: 3.183

Review 2.  Genetic markers on chromosome 7.

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

3.  The breakpoint on 7p in a patient with t(6;7) and craniosynostosis is spanned by a YAC clone containing the D7S503 locus.

Authors:  K Tsuji; K Narahara; Y Yokoyama; K H Grzeschik; J Kunz
Journal:  Hum Genet       Date:  1995-03       Impact factor: 4.132

Review 4.  De novo terminal deletion 7p22.1--pter in a child without craniosynostosis.

Authors:  F Speleman; M Craen; J Leroy
Journal:  J Med Genet       Date:  1989-08       Impact factor: 6.318

Review 5.  Ring chromosome 7: report of the fifth case.

Authors:  G M Caramia; A Baroncini; P Osimani; A Forabosco
Journal:  Eur J Pediatr       Date:  1990-04       Impact factor: 3.183

Review 6.  Pathology in metopic synostosis.

Authors:  Pinar Karabagli
Journal:  Childs Nerv Syst       Date:  2013-10-03       Impact factor: 1.475

7.  Hydrocephalus in craniosynostosis.

Authors:  H Collmann; N Sörensen; J Krauss; J Mühling
Journal:  Childs Nerv Syst       Date:  1988-10       Impact factor: 1.475

8.  Platelet-derived growth factor A chain: gene structure, chromosomal location, and basis for alternative mRNA splicing.

Authors:  D T Bonthron; C C Morton; S H Orkin; T Collins
Journal:  Proc Natl Acad Sci U S A       Date:  1988-03       Impact factor: 11.205

9.  The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.

Authors:  L A Brueton; L van Herwerden; K A Chotai; R M Winter
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

10.  Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis.

Authors:  Omid Kohannim; Jane Peredo; Katrina M Dipple; Fabiola Quintero-Rivera
Journal:  Case Rep Genet       Date:  2011-12-08
  10 in total

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