Literature DB >> 16488202

Partial trisomy 17p12pter, associated with pre and postnatal growth retardation, dysmorphic facial and digital features, developmental delay, and signs of HMSN1 in early childhood.

J Vogt, S Hill, L Brueton.   

Abstract

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Year:  2006        PMID： 16488202     DOI： 10.1016/j.ejmg.2006.01.002

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN： 1769-7212            Impact factor:   2.708


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  3 in total

1.  Hypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication: A Case Report.

Authors:  Josef Finsterer
Journal:  Oman Med J       Date:  2012-03

2.  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

3.  Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17p.

Authors:  Melab Musabi; Ayman Saker; Jessi Baer; Peter Wang; Anahita Mohseni Meybodi; Chitra Prasad; Soume Bhattacharya
Journal:  Clin Case Rep       Date:  2022-10-06
  3 in total

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