Apparent Opitz BBBG syndrome with a partial duplication of 5p

We describe a patient with a paracentric inversion and partial duplication of chromosome 5p. In addition this patient presented with a malformation pattern consistent with Opitz BBBG syndrome. This implies that the gene responsible for this single gene defect may be located within this duplicated re...

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Veröffentlicht in:	American journal of medical genetics 1991-08, Vol.40 (2), p.173-176
Hauptverfasser:	Leichtman, Lawrence G., Werner, Alice, Bass, W. Thomas, Smith, Deborah, Brothman, Arthur R.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Biological and medical sciences chromosome 5 Chromosome aberrations Chromosome Inversion Chromosomes, Human, Pair 5 duplication gene locus Humans Hypertelorism - genetics Infant, Newborn laryngeal cleft Larynx - abnormalities Male Medical genetics Medical sciences multiple congenital anomalies Opitz G syndrome Opitz-Frias syndrome partial trisomy Syndrome Trisomy
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