Literature DB >> 7081295

Brief clinical report: the dup(17p) syndrome.

G M Feldman, J G Baumer, R S Sparkes.   

Abstract

In a 42-month-old girl a duplicated 17p chromosome anomaly was identified by trypsin-Giemsa banding techniques. The clinical findings are compared with those of previous case reports. Common phenotypics changes include failure to thrive; hypoplastic, apparently low-set ears; micrognathia; flexion abnormalities of fingers; and foot abnormalities.

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Year:  1982        PMID： 7081295     DOI： 10.1002/ajmg.1320110306

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


  3 in total

Review 1.  Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes.

Authors:  Juanita Neira-Fresneda; Lorraine Potocki
Journal:  J Pediatr Genet       Date:  2015-09-28

2.  A molecular, cytogenetic, and clinical evaluation of mosaic tandem duplication 17p and Charcot-Marie-Tooth type 1A neuropathy.

Authors:  K S Reddy; M B Larsen
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

3.  DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.

Authors:  L Potocki; K S Chen; T Koeuth; J Killian; S T Iannaccone; S K Shapira; C D Kashork; A S Spikes; L G Shaffer; J R Lupski
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025
  3 in total

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