Literature DB >> 711238

Chromosome 7 short-arm interstitial deletion (p14).

S J Moedjono, S J Funderburk, R S Sparkes.   

Abstract

A 13-year-old girl presented with microcephaly, short and broad neck, low posterior hairline, congenital heart disease, limitation of joint movement, and mild mental retardation. Chromosomal analysis showed interstitial deletion of band p14 of the short arm of chromosome 7. The patient's physical and cytogenetic findings are compared with those of five other patients with 7p- deletions.

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Year:  1978        PMID: 711238     DOI: 10.1007/bf00283574

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


  7 in total

1.  Defective chemotaxis in monosomy-7.

Authors:  P Ruutu; T Ruutu; P Vuopie; T U Kosunen; A de la Chapelle
Journal:  Nature       Date:  1977-01-13       Impact factor: 49.962

2.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

3.  Giant satellites or translocation?

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

4.  Ring chromosome 7 with variable phenotypic expression.

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

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

Authors:  B T Gong; T H Norwood; H Hoehn; E McPherson; J G Hall; R Hickman
Journal:  Hum Genet       Date:  1976-12-29       Impact factor: 4.132

6.  [States of fragility of chromosome 7 in man].

Authors:  C Bugnon; J L Bresson
Journal:  Bull Assoc Anat (Nancy)       Date:  1976-09

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

Authors:  U Friedrich; T Lyngbye; J Oster
Journal:  Humangenetik       Date:  1975
  7 in total
  4 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.  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

3.  Interstitial deletion of chromosome 7p detected antenatally.

Authors:  K Marks; L Hill; R G Chitham; W L Whitehouse
Journal:  J Med Genet       Date:  1985-08       Impact factor: 6.318

4.  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

  4 in total

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