FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype
- 1 August 1994
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 52 (1) , 92-96
- https://doi.org/10.1002/ajmg.1320520118
Abstract
An infant girl with manifestations resembling Opitz trigonocephaly (C) syndrome who died at age 6 days was found to have a complex chromosome abnormality with t(13;18)(q22;q23) and a recombinant chromosome 13 involving duplicated segments of 13q. Precise characterization was possible with the application of fluorescence in situ hybridization (FISH) using chromosome specific probes. The patient's phenotype is compared to that of other syndromes involving trigonocephaly.Keywords
This publication has 16 references indexed in Scilit:
- Opitz trigonocephaly syndromeAmerican Journal of Medical Genetics, 1991
- “C” trigonocephaly syndrome: Clinical variability and possibility of surgical treatmentAmerican Journal of Medical Genetics, 1990
- “C” trigonocephaly syndrome: Two additional casesAmerican Journal of Medical Genetics, 1990
- C syndrome with apparently normal developmentAmerican Journal of Medical Genetics, 1990
- Opitz C syndrome and pseudohypoaldosteronismAmerican Journal of Medical Genetics, 1990
- Diagnosis of chromosome 3 duplication q23→qter, deletion p25→pter in a patient with the C (trigonocephaly) syndromeAmerican Journal of Medical Genetics, 1986
- Trigonocephaly and the Opitz C syndrome.Journal of Medical Genetics, 1985
- Two children with de novo del(9p)American Journal of Medical Genetics, 1983
- A recognizable phenotype in a child with partial duplication 13q in a family with t(10q;13q)Clinical Genetics, 1981
- The 13q- deletion syndrome.Journal of Medical Genetics, 1971