Apparent Opitz BBBG syndrome with a partial duplication of 5p

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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Beschreibung
Zusammenfassung: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 region.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320400210