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Title: Deletion of the long arm of chromosome 6: two new patients and literature review
Authors: Evers, L J ×
Schrander-Stumpel, C T
Engelen, J J
Hoorntje, T M
Pulles-Heintzberger, C F
Schrander, J J
Albrechts, J C
Peters, Jan
Fryns, Jean-Pierre #
Issue Date: Sep-1996
Publisher: Munksgaard
Series Title: Clinical Genetics vol:50 issue:3 pages:138-44
Abstract: Two children with a partial monosomy 6q are reported: a girl with an interstitial deletion [46,XX,del(6)(q16.2q23.1)], and a boy with a terminal deletion [46,XY,del(6)(q25.1)]. Both children presented with developmental delay, facial dysmorphism and a cardiac defect. The patients have been studied using G banding and cosmid probes specific for the long arm of chromosome 6. Clinical data are compared with patients reported in the literature.
ISSN: 0009-9163
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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