Literature DB >> 2688417

Terminal deletion of the long arm of chromosome 10: case report and review of the literature.

M Gorinati1, G Zamboni, N Padoin, A Dodero, D Caufin, L Memo.   

Abstract

We report on a newborn girl with a terminal deletion of the long arm of chromosome 10: del (10)(pter----q26). The phenotypic manifestations are compatible with those of the previously reported cases. In addition, the association with abnormalities of the urinary tract is reported for the first time. A clinical and neurodevelopmental follow-up is described up to age 18 months.

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Year:  1989        PMID: 2688417     DOI: 10.1002/ajmg.1320330418

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

1.  Monosomy 10qter: a new case.

Authors:  M Teyssier; C Charrin; J Dutruge; C Rousselle
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

2.  An epidemiological study of isolated split hand/foot in Hungary, 1975-1984.

Authors:  A E Czeizel; M Vitéz; I Kodaj; W Lenz
Journal:  J Med Genet       Date:  1993-07       Impact factor: 6.318

3.  Parental origin effects in human trisomy for chromosome 14q: implications for genomic imprinting.

Authors:  P Georgiades; C Chierakul; A C Ferguson-Smith
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318

4.  Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.

Authors:  Fátima Lopes; Gabriela Soares; Miguel Gonçalves-Rocha; Jorge Pinto-Basto; Patrícia Maciel
Journal:  Front Genet       Date:  2017-10-09       Impact factor: 4.599

  4 in total

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