Literature DB >> 4855263

Trisomy for the distal segment of chromosome 13: a new syndrome.

J I Escobar, O Sanchez, J J Yunis.   

Abstract

Mesh：

Year:  1974        PMID： 4855263     DOI： 10.1001/archpedi.1974.02110270091019

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN： 0002-922X


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  19 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.  A case of duplication of 13q32-->qter and deletion of 18p11.32-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited.

Authors:  N Helali; A K Iafolla; S G Kahler; M B Qumsiyeh
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

3.  A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21).

Authors:  M Jotterand; E Juillard
Journal:  Hum Genet       Date:  1976-08-30       Impact factor: 4.132

4.  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

5.  Partial trisomy 13q21toqter de novo due to a recombinant chromosome rec(13)dup q.

Authors:  M Habedank
Journal:  Hum Genet       Date:  1979-11-01       Impact factor: 4.132

6.  Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.

Authors:  H J Kim; L Y Hsu; L C Goldsmith; L Strauss; K Hirschhorn
Journal:  J Med Genet       Date:  1977-04       Impact factor: 6.318

7.  Familial pericentric inversion (13) detected by antenatal diagnosis.

Authors:  E L Maltby
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

Review 8.  Pericentric inversions. Problems and significance for clinical genetics.

Authors:  P Kaiser
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

9.  The aetiology of the cat eye syndrome reconsidered.

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

10.  Duplication deficiency as the result of meiotic segregation of a maternal InV (10).

Authors:  E Yunis; O Torres de Caballero
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
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