Literature DB >> 1002161

Chromosome 7 short arm deletion and craniosynostosis. A 7p-syndrome.

B T Gong, T H Norwood, H Hoehn, E McPherson, J G Hall, R Hickman.   

Abstract

A patient with craniosynostosis and a small deletion of part of the short arm of chromosome 7 is described. A review of the literature indicates that craniosynostosis has occurred in at least four of the five infants (the fifth having microcephaly) affected by structural changes (resulting in deletion) within the terminal region of the short arm of chromosome 7.

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Year:  1976        PMID： 1002161     DOI： 10.1007/bf00295627

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


  9 in total

1.  CRANIOSYNOSTOSIS: A SURVEY OF 204 CASES.

Authors:  F M ANDERSON; L GEIGER
Journal:  J Neurosurg       Date:  1965-03       Impact factor: 5.115

2.  Craniostenosis. Review of the literature and report of thirty-four cases.

Authors:  J M FREEMAN; S BORKOWF
Journal:  Pediatrics       Date:  1962-07       Impact factor: 7.124

3.  The relationship between patterns of DNA replication and of quinacrine fluorescence in the human chromosome complement.

Authors:  E Ganner; H J Evans
Journal:  Chromosoma       Date:  1971       Impact factor: 4.316

4.  Giant satellites or translocation?

Authors:  M G Wilson; A Fujimoto; N W Shinno; J W Towner
Journal:  Cytogenet Cell Genet       Date:  1973

5.  Localization of the deleted segment in the Cri-du-Chat syndrome.

Authors:  E Niebuhr
Journal:  Humangenetik       Date:  1972

6.  A chromosome 13q+ in a patient with characteristics of the trisomy 13 syndrome.

Authors:  H Hoehn; U Wolf; H Schumacher; H Wehinger
Journal:  Humangenetik       Date:  1971

7.  Craniosynostosis: a review of 519 surgical patients.

Authors:  J Shillito; D D Matson
Journal:  Pediatrics       Date:  1968-04       Impact factor: 7.124

8.  Ring chromosome 7 with variable phenotypic expression.

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

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

Authors:  U Friedrich; T Lyngbye; J Oster
Journal:  Humangenetik       Date:  1975
  9 in total
  14 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

2.  Small structural changes of chromosome 8. Two cases with evidence for deletion.

Authors:  C Beighle; L E Karp; J W Hanson; J G Hall; H Hoehn
Journal:  Hum Genet       Date:  1977-08-31       Impact factor: 4.132

3.  Familial trisomy 9p and spinal muscular atrophy: clinical, cytogenetic and embryological findings.

Authors:  M Tolksdorf; J Kunze; G Gross-Selbeck; K Sperling; R D Wegner; V Wieczorek; M Vogel
Journal:  Eur J Pediatr       Date:  1977-08-23       Impact factor: 3.183

Review 4.  Genetic markers on chromosome 7.

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

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

Authors:  M Schömig-Spingler; M Schmid; W Brosi; T Grimm
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132

6.  A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy.

Authors:  A G Hunter; P J McAlpine; N L Rudd; F C Fraser
Journal:  J Med Genet       Date:  1977-12       Impact factor: 6.318

7.  Craniosynostosis and Craniofacial Anomalies.

Authors: 
Journal:  West J Med       Date:  1980-06

8.  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

9.  A craniosynostosis in a boy with a del(7)(p15.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21.

Authors:  T Motegi; M Ohuchi; C Ohtaki; K Fujiwara; S Enomoto; T Hasegawa; K Kishi; H Hayakawa
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

10.  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
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