Literature DB >> 10488863

Hand involvement in 13q deletion syndrome.

S I Grindel1, C Sandlin, V E Wood.   

Abstract

Deletion in the long arm of chromosome 13 is relatively rare. Fewer than 100 cases are reported in the literature. Patients with 13q deletion have widely variable phenotypes. Hand anomalies, when present, include absent or hypoplastic thumbs, bony synostoses of the metacarpals, and brachyphalangy of the middle phalanx of the little finger. We report four cases with 13q deletion seen at our Hand Clinic.

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Year:  1999        PMID: 10488863

Source DB:  PubMed          Journal:  J Pediatr Orthop        ISSN: 0271-6798            Impact factor:   2.324


  1 in total

1.  13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.

Authors:  Lucia Ballarati; Elena Rossi; Maria Teresa Bonati; Stefania Gimelli; Paola Maraschio; Palma Finelli; Sabrina Giglio; Elisabetta Lapi; Maria Francesca Bedeschi; Silvana Guerneri; Giulia Arrigo; Maria Grazia Patricelli; Teresa Mattina; Oriana Guzzardi; Vanna Pecile; Adalgisa Police; Gioacchino Scarano; Lidia Larizza; Orsetta Zuffardi; Daniela Giardino
Journal:  J Med Genet       Date:  2007-01       Impact factor: 6.318

  1 in total

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