Literature DB >> 315197

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

C Turleau, J Séger, J de Grouchy, F Doré, J C Job.   

Abstract

A de novo del (13) (q33) was found in a 14-month-old boy with hypospadias. Phenotype anomalies included growth retardation, psychomotor retardation (QD = 64), microcephaly with brachycephaly, a round, flat and asymmetrical facies, a normal nose bridge, a small, pointed chin. The patient is heterozygous ESD 2-1. The gene localization may thus be excluded from bands 13q33 and q34 and assigned to bands q31 or q32, if its previous assignment to the q3 region is confirmed.

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Year:  1978        PMID: 315197

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  6 in total

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

Authors:  H Rivera; S A González-Flores; F Rivas; J Sánchez-Corona; M Moller; J M Cantú
Journal:  J Med Genet       Date:  1985-04       Impact factor: 6.318

2.  Confirmation of regional assignment of gene for human esterase-D to chromosome band 13q14.

Authors:  J J Hoo; M Koch; B Ziemsen; W Foerster; I Nishigaki
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

3.  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

4.  Atypical segregation of esterase D: evidence of a rare "silent" allele EsD0.

Authors:  P Kozioł; J Stepien
Journal:  Hum Genet       Date:  1980-02       Impact factor: 4.132

5.  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

Review 6.  Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature.

Authors:  Brian P Brooks; Jeanne M Meck; Bassem R Haddad; Claude Bendavid; Delphine Blain; Jeffrey A Toretsky
Journal:  BMC Med Genet       Date:  2006-01-13       Impact factor: 2.103

  6 in total

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