Trisomy 7p: Report of 2 patients and literature review

Authors
Arens, YHJM Toutain, A Engelen, JJM Offermans, JPM Hamers, AJH Schrander, JJP Pulles-Heintzberger, CFM Schrander-Stumpel, CTRM
Citation
Yhjm. Arens et al., Trisomy 7p: Report of 2 patients and literature review, GEN COUNSEL, 11(4), 2000, pp. 347-354
Citations number
13
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
GENETIC COUNSELING
ISSN journal
10158146 → ACNP
Volume
11
Issue
4
Year of publication
2000
Pages
347 - 354
Database
ISI
SICI code
1015-8146(2000)11:4<347:T7RO2P>2.0.ZU;2-6
Abstract
Both were assessed by facial dysmorphism and congenital anomalies. In one o f the patients trisomy 7p was a de novo event, in the other patient unbalan ced inheritance of a parental translocation caused trisomy 7p. Developmenta l delay was severe in both. Our 2 cases are compared with patients reported in literature.