Literature DB >> 2185636

Apparently nonmosaic trisomy 22: clinical report and review.

T S Sundareshan1, K K Naguib, S A al-Awadi, M A Redha, M S Hamoud.   

Abstract

We report on apparently nonmosaic trisomy 22 in a liveborn girl with multiple congenital anomalies. The abnormalities were growth retardation; microcephaly; hypertelorism; epicanthic folds; anti-mongoloid slant; apparently low-set, malformed ears; highly arched, cleft palate; short webbed neck; and hypoplastic nails. The extra 22 was found to be of maternal origin by chromosome polymorphism.

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Year:  1990        PMID： 2185636     DOI： 10.1002/ajmg.1320360103

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


  3 in total

1.  Hydrocephalus in an infant with trisomy 22.

Authors:  F Fahmi; S Schmerler; R G Hutcheon
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

2.  Live-born trisomy 22: patient report and review.

Authors:  T Heinrich; I Nanda; M Rehn; U Zollner; E Frieauff; J Wirbelauer; T Grimm; M Schmid
Journal:  Mol Syndromol       Date:  2013-01-11

3.  The transcriptomes of novel marmoset monkey embryonic stem cell lines reflect distinct genomic features.

Authors:  Katharina Debowski; Charis Drummer; Jana Lentes; Maren Cors; Ralf Dressel; Thomas Lingner; Gabriela Salinas-Riester; Sigrid Fuchs; Erika Sasaki; Rüdiger Behr
Journal:  Sci Rep       Date:  2016-07-07       Impact factor: 4.379
  3 in total

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