Literature DB >> 1112608

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

U Friedrich, T Lyngbye, J Oster.   

Abstract

A girl with partial deletion of the short arms of one chromosome 7 is described. Among many other symptoms she has craniosynostoses. Early closure of cranio-sutures has previously been described in 2 of 3 patients with partial deletion 7. Investigation of a number of genetic marker systems shows that the HL-A, MN, AcP, and GPT loci are not located in the deleted segment.

Entities:  

Mesh：

Year:  1975        PMID： 1112608     DOI： 10.1007/bf00278448

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


  3 in total

1.  Deletion of the short arm of chromosome no.9 (46,9p-): a new deletion syndrome.

Authors:  O Alfi; G N Donnell; B F Crandall; A Derencsenyi; R Menon
Journal:  Ann Genet       Date:  1973-03

2.  Giant satellites or translocation?

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

3.  Ring chromosome 7 with variable phenotypic expression.

Authors:  E H Zackai; W R Breg
Journal:  Cytogenet Cell Genet       Date:  1973
  3 in total
  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.  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

4.  Partial monosomy 10p syndrome.

Authors:  J M Klep-de Pater; J B Bijlsma; F M Alkema
Journal:  Eur J Pediatr       Date:  1981-10       Impact factor: 3.183

Review 5.  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

6.  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

7.  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

8.  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

9.  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

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
  10 in total

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