Literature DB >> 1277571

Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations.

B Noel, B Quack, M O Rethore.   

Abstract

New techniques of human karyotyping have allowed us to define accurately the banding pattern of six new cases with partial duplication of deficiency of chromosome 13. It now seems possible to draw a rough map of chromosome 13, correlating observed malformations and phenotypic features with specific chromosome regions. Partial monosomy shows clinical features which are the antithesis of the corresponding trisomic phenotype (Lejeune 1966).

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Year:  1976        PMID： 1277571     DOI： 10.1111/j.1399-0004.1976.tb01618.x

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


  40 in total

1.  A case of (13q;18q) translocation with proximal 13q monosomy.

Authors:  Y Suzuki; K Ono; S Oka; T Matsubara; M Arima; Y Nakagome
Journal:  Hum Genet       Date:  1977-10-14       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 13 as a result of de novo (6p;13q) translocation.

Authors:  L A Jones; K Taysi; A W Strauss; A F Hartmann
Journal:  Hum Genet       Date:  1979-04-27       Impact factor: 4.132

Review 4.  Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Authors:  P Jalbert; B Sele
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

5.  Interstitial deletion of chromosome 13 and associated congenital anomalies.

Authors:  W W Nichols; R C Miller; E Hoffman; D Albert; R R Weichselbaum; J Nove; J B Little
Journal:  Hum Genet       Date:  1979-11       Impact factor: 4.132

6.  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

7.  The aetiology of the cat eye syndrome reconsidered.

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

8.  Interstitial deletion 13q syndromes: a report on two unrelated patients.

Authors:  M Serena-Lungarotti; A Calabro; G Mariotti; P P Mastroiacovo; S Provenzano; B Dallapiccola
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

9.  Interstitial deletion of chromosome 13: prognosis and adult phenotype.

Authors:  J C Dean; S Simpson; D A Couzin; G S Stephen
Journal:  J Med Genet       Date:  1991-08       Impact factor: 6.318

10.  Familial retinoblastoma (mother and son) with 13q14 deletion.

Authors:  Y Fukushima; Y Kuroki; T Ito; I Kondo; I Nishigaki
Journal:  Hum Genet       Date:  1987-10       Impact factor: 4.132
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