Literature DB >> 4849346

[Partial trisomy 13 in a family with balanced translocation (13 q-;16 q plus) (author's transl)].

G Schwanitz, K P Grosse, U Semmelmayer, H Mangold.   

Abstract

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Year:  1974        PMID: 4849346

Source DB:  PubMed          Journal:  Monatsschr Kinderheilkd


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  6 in total

1.  Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13: report of three cases.

Authors:  A Schinzel; K Hayashi; W Schmid
Journal:  Hum Genet       Date:  1976-04-15       Impact factor: 4.132

2.  Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.

Authors:  S A Tharapel; R C Lewandowski; A T Tharapel; R S Wilroy
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

3.  Partial trisomy of 13(pter to q12) due to 47,XY, + der(13),t(13;22)(q12;q13)mat.

Authors:  S J Moedjono; R S Sparkes
Journal:  Hum Genet       Date:  1979-09       Impact factor: 4.132

4.  The aetiology of the cat eye syndrome reconsidered.

Authors:  G Guanti
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318

5.  Proximal trisomy 13. A family with balanced reciprocal translocation t(8;13) in seven members and Robertsonian translocation t(13;14) in three members.

Authors:  S Gilgenkrantz; C Defeche; S Stehlin; M J Gregoire
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

Authors:  A Schinzel; W Schmid; M Fraccaro; L Tiepolo; O Zuffardi; J M Opitz; J Lindsten; P Zetterqvist; H Enell; C Baccichetti; R Tenconi; R A Pagon
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

  6 in total

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