Literature DB >> 6312571

[17p trisomy].

M O Rethoré, F Renault, J Lafourcade, C Supeira, J P Padovani, J Lejeune.   

Abstract

Trisomy 17p resulting from a parental translocation t(10;17)(q26.3;p11) was observed in a 22-month-old boy. Analysis of five cases of trisomy 17p from the literature indicates a common malformation pattern: microcephaly, excessive development of the median part of the frontal region, mandibular hypoplasia, permanent opening of the mouth, a high-arched palate, a short, webbed neck, hypotonia, growth retardation, and severe mental retardation. Three abnormal features emphasized by the authors are permanent myosis due to a structural anomaly of the iris; an unusually low blood folate concentration; and an unusual hand configuration, the first four fingers flexed and the little finger extended.

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Year:  1983        PMID: 6312571

Source DB:  PubMed          Journal:  Sem Hop


  1 in total

1.  Cystic Dilation of the Aqueductus Sylvii in Case of Trisomy 17p11.2-pter with the Deletion of the Terminal Portion of the Chromosome 6.

Authors:  Emese Horváth; János Sikovanyecz; Attila Pál; László Kaiser; Bálint L Bálint; Póliska Szilárd; Zoltán Kozinszky; János Szabó
Journal:  Case Rep Med       Date:  2011-01-16
  1 in total

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