Literature DB >> 3989831

Monosomy 13q32.3----qter: report of two cases.

H Rivera, S A González-Flores, F Rivas, J Sánchez-Corona, M Moller, J M Cantú.   

Abstract

Two unrelated patients with monosomy 13q32.3----qter are reported. Comparison with six similar cases previously published indicates that the craniofacial dysmorphism of the 13qter monosomy syndrome is related to band 13q34, the thumb hypoplasia to band 13q32, and an apparently different phenotype to band 13q33. Coagulation deficiency appears to be non-specific in monosomy 13qter.

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Mesh：

Year:  1985        PMID： 3989831      PMCID： PMC1049402          DOI： 10.1136/jmg.22.2.142

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  9 in total

1.  Interstitial deletion 13q33 resulting from maternal insertional translocation.

Authors:  B S Emanuel; E H Zackai; L Moreau; P Coates; E Orrechio
Journal:  Clin Genet       Date:  1979-11       Impact factor: 4.438

2.  [Coagulation factor VII deficiency in 3 patients with trisomy 8].

Authors:  J de Grouchy; F Josso; S Beguin; C Turleau; P Jalbert; C Laurent
Journal:  Ann Genet       Date:  1974-06

3.  [13q+ chromosome due to a probable translocation of a supernumerary Y].

Authors:  S Gilgenkrantz; M Pierson; G Mauuary
Journal:  Ann Genet       Date:  1973-09

4.  The 13q-deletion syndrome.

Authors:  P W Allderdice; J G Davis; O J Miller; H P Klinger; D Warburton; D A Miller; F H Allen; C A Abrams; E McGilvray
Journal:  Am J Hum Genet       Date:  1969-09       Impact factor: 11.025

5.  Regional mapping of clotting factors VII and X to 13q34. Expression of factor VII through chromosome 8.

Authors:  J de Grouchy; M D Dautzenberg; C Turleau; S Beguin; F Chavin-Colin
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation.

Authors:  F Rivas; H Rivera; M L Plascencia; B Ibarra; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

7.  Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34).

Authors:  R A Pfeiffer; R Ott; S Gilgenkrantz; P Alexandre
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

8.  Long arm deletion of chromosome 13 with exclusion of esterase D from 13q32 leads to 13qter.

Authors:  M A Telfer; C E Clark; P A Casey; H R Cowell; H H Stroud
Journal:  Clin Genet       Date:  1980-06       Impact factor: 4.438

9.  [Del (13) (q33). Exclusion of esterase D (ESD) from 13q33 and q34].

Authors:  C Turleau; J Séger; J de Grouchy; F Doré; J C Job
Journal:  Ann Genet       Date:  1978-09
  9 in total

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