Dicentric marker derived from chromosome 22 associated with mild clinical signs: a case report

Authors
Lohmann, L Chelloug, N Rosales, B Guerin, C Lyonnet, S Jonveaux, P Simon-Bouy, B
Citation
L. Lohmann et al., Dicentric marker derived from chromosome 22 associated with mild clinical signs: a case report, PRENAT DIAG, 20(2), 2000, pp. 156-158
Citations number
18
Categorie Soggetti
Reproductive Medicine","Medical Research Diagnosis & Treatment
Journal title
PRENATAL DIAGNOSIS
ISSN journal
01973851 → ACNP
Volume
20
Issue
2
Year of publication
2000
Pages
156 - 158
Database
ISI
SICI code
0197-3851(200002)20:2<156:DMDFC2>2.0.ZU;2-S
Abstract
Amniocentesis performed after 24 weeks' gestation following ultrasonographi c diagnosis of isolated unilateral hydronephrosis showed a de novo extra st ructurally abnormal chromosome in all cells examined. A combination of conv entional and molecular cytogenetic techniques characterized the supernumera ry marker as a dicentric and bisatellited marker derived from chromosome 22 . At birth the infant presented hypoplasia of the right kidney, hearing los s on the left side and bilateral preauricular pits and skin tags. At three years, growth and neurological development were normal. Copyright (C) 2000 John Wiley & Sons, Ltd.