Title: Partial trisomy and partial monosomy of the distal long arm of chromosome 4: patient report and literature review
Authors: Frints, S G ×
Schrander-Stumpel, C T
Engelen, J J
Da Costa, A J
Fryns, Jean-Pierre #
Issue Date: Dec-1996
Series Title: Genetic Counseling vol:7 issue:2 pages:135-42
Abstract: We report the first patient with a partial trisomy and a partial monosomy of the long arm of chromosome 4: 46,XY, inv dup(4)(pter-->q32::q32-->q26), del(4)(q32-->qter). The boy died from a complex cardiac defect (monoventricle, monoatrium and truncus arteriosus) in combination with a diaphragmatic hernia. In addition he had preaxial polydactyly of the right hand. We compare the clinical features with data from the literature. The phenotype of the patient mainly resembles that in patients with a terminal deletion 4q32.
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

Files in This Item:

There are no files associated with this item.

Request a copy


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science