CASE-REPORT - DE-NOVO INHERITED 18P DELETION IN A MOTHER-FETUS PAIR WITH EXTREMELY VARIABLE EXPRESSION, CONFIRMED BY FLUORESCENCE IN-SITU HYBRIDIZATION (FISH) ANALYSIS

Authors
TONK V KRISHNA J
Citation
V. Tonk et J. Krishna, CASE-REPORT - DE-NOVO INHERITED 18P DELETION IN A MOTHER-FETUS PAIR WITH EXTREMELY VARIABLE EXPRESSION, CONFIRMED BY FLUORESCENCE IN-SITU HYBRIDIZATION (FISH) ANALYSIS, European journal of obstetrics, gynecology, and reproductive biology, 73(2), 1997, pp. 193-196
Citations number
8
Categorie Soggetti
Reproductive Biology","Obsetric & Gynecology
Journal title
European journal of obstetrics, gynecology, and reproductive biology → ACNP
ISSN journal
03012115
Volume
73
Issue
2
Year of publication
1997
Pages
193 - 196
Database
ISI
SICI code
0301-2115(1997)73:2<193:C-DI1D>2.0.ZU;2-T
Abstract
Denovo deletions of 18p without other associated rearrangement are unc ommon. For such a deletion to profoundly affect the fetus of a near no rmal phenotypic carrier would be rarer. We present such a case in whic h the chance of a cryptic rearrangement was ruled out by fluorescence in situ hybridization (FISH) analysis. Possible explanations for wide variations in clinical expression are discussed. (C) 1997 Elsevier Sci ence Ireland Ltd.