Literature DB >> 2805383

Case of cyclopia with an unbalanced karyotype attributable to a balanced 3/7 translocation.

K F Bürrig1, J Gebauer, R Terinde, P Pfitzer.   

Abstract

This report presents a case of cyclopia attributable to an unbalanced karyotype in a family with a balanced, reciprocal 3/7 translocation. This case was the fifth recorded in three generations of this family. From this report it is possible that the simultaneous action of partial trisomy 3p and partial monosomy 7q may be one cause of holoprosencephaly.

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Year:  1989        PMID： 2805383     DOI： 10.1111/j.1399-0004.1989.tb03200.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  3 in total

1.  Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15).

Authors:  E D'Alessandro; C Ligas; M L Lo Re; M P Marcanio; T Gentile; G Del Porto
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

2.  Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly.

Authors:  B Benzacken; J P Siffroi; C Le Bourhis; K Krabchi; N Joyé; F Maschino; F Viguié; J Soulié; M Gonzales; G Migné; M Bucourt; F Encha-Razavi; L Carbillon; J L Taillemite
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

Review 3.  Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.

Authors:  N Morichon-Delvallez; A L Delezoide; M Vekemans
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318
  3 in total

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