FISH DIAGNOSIS OF PARTIAL TRISOMY-13 AND TETRASOMY-13 IN A PATIENT WITH SEVERE TRIGONOCEPHALY-(C) PHENOTYPE

Authors
CHU TW TEEBI AS GIBSON L BREG WR YANGFENG TL
Citation
Tw. Chu et al., FISH DIAGNOSIS OF PARTIAL TRISOMY-13 AND TETRASOMY-13 IN A PATIENT WITH SEVERE TRIGONOCEPHALY-(C) PHENOTYPE, American journal of medical genetics, 52(1), 1994, pp. 92-96
Citations number
20
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
52
Issue
1
Year of publication
1994
Pages
92 - 96
Database
ISI
SICI code
0148-7299(1994)52:1<92:FDOPTA>2.0.ZU;2-S
Abstract
An infant girl with manifestations resembling Opitz trigonocephaly (C) syndrome who died at age 6 days was found to have a complex chromosom e abnormality with t(13;18)(q22;q23) and a recombinant chromosome 13 i nvolving duplicated segments of 13q. Precise characterization was poss ible 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. (C) 1994 Wiley-L iss, Inc.