Abstract:
:We present two siblings with oculoauriculovertebral spectrum phenotype (Goldenhar syndrome) and an unbalanced translocation t(5;8)(p15.31;p23.1) resulting in monosomy for the region 5p15.31 to 5pter and trisomy for 8p23.2 to 8pter region. The father was a carrier of the balanced rearrangement 46,XY,t(5;8)(p15.31;8p23.1). To our knowledge this is the first report of Goldenhar phenotype in association with an unbalanced (5p;8p) translocation.
journal_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
Josifova DJ,Patton MA,Marks Kdoi
10.1097/01.mcd.0000126138.37196.26subject
Has Abstractpub_date
2004-07-01 00:00:00pages
151-3issue
3eissn
0962-8827issn
1473-5717pii
00019605-200407000-00005journal_volume
13pub_type
杂志文章abstract::We report three further patients with similar clinical signs to those described by Desbuquois et al. (Desbuquois G, Grenier B, Michel J, Rossignol C (1966): Arch Fr Pédiatr 23; 573-587) Two of the patients were born to consanguineous parents, confirming autosomal recessive inheritance of this condition. The patients p...
journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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