Literature DB >> 1621760

Trisomy 8: an additional case with unique manifestations [correction].

M I de Michelena1, R Sánchez, P Muñoz, E Cabello, P Rojas, E de Olazaval.   

Abstract

We report on an infant with multiple congenital anomalies and mosaic trisomy 8 [corrected]. Clinical findings are presented, and compared with those of the 24 cases previously reported. Some unusual characteristics found in this patient include macrocephaly, an extreme degree of palatal hypoplasia, and abnormally shaped long bones.

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Year:  1992        PMID: 1621760     DOI: 10.1002/ajmg.1320430409

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


  1 in total

Review 1.  Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation.

Authors:  C Stoll; D Chognot; A Halb; J C Luckel
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

  1 in total

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