Literature DB >> 16760729

The tale of a nail sign in chromosome 4q34 deletion syndrome.

Julie Vogt1, Ethel Ryan, Marc D Tischkowitz, William Reardon, Louise A Brueton.   

Abstract

Relatively, few reports of deletions involving the distal long arm of chromosome 4 (4q) exist. Five further cases are described and the findings are compared with those in previous literature reports. Distal 4q deletions may be recognized by the distinctive appearance of the fifth finger, which is stiff with a hypoplastic distal phalanx and a hooked or volar nail. All cases with this characteristic fifth finger anomaly appear to have deletions involving 4q34.

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Year:  2006        PMID: 16760729     DOI: 10.1097/01.mcd.0000203632.86190.64

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  6 in total

1.  4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome.

Authors:  Goran Cuturilo; Björn Menten; Aleksandar Krstic; Danijela Drakulic; Ida Jovanovic; Vojislav Parezanovic; Milena Stevanovic
Journal:  Eur J Pediatr       Date:  2011-07-22       Impact factor: 3.183

Review 2.  Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature.

Authors:  Michael R Rossi; Miriam S DiMaio; Bixia Xiang; Kangmo Lu; Hande Kaymakcalan; Margretta Seashore; Maurice J Mahoney; Peining Li
Journal:  Am J Med Genet A       Date:  2009-12       Impact factor: 2.802

3.  A familial deletion 4q syndrome: An outcome of a paracentric inversion.

Authors:  Meena Lall; Ratna Puri; Pushpa Saviour; Ishwar Verma
Journal:  Indian J Hum Genet       Date:  2012-05

4.  Novel copy number variants in children with autism and additional developmental anomalies.

Authors:  L K Davis; K J Meyer; D S Rudd; A L Librant; E A Epping; V C Sheffield; T H Wassink
Journal:  J Neurodev Disord       Date:  2009-05-27       Impact factor: 4.025

5.  Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomy.

Authors:  Eric Scott Sills; M J Burns; Laurinda D Parker; Lisa P Carroll; Lisa L Kephart; C S Dyer; Peter R Papenhausen; Jessica G Davis
Journal:  Orphanet J Rare Dis       Date:  2007-02-12       Impact factor: 4.123

6.  Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3).

Authors:  Norma Elena de León Ojeda; Michel Soriano-Torres; Mercedes J Cabrera; Dunia Bárbara Benítez Ramos
Journal:  Case Rep Genet       Date:  2012-12-25
  6 in total

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