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Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37
Author(s) -
Armstrong Linlea,
Allanson Judith E.,
Weaver David D.,
Bevan Carole J.,
Hobart Holly H.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30502
Subject(s) - chromosomal inversion , gene duplication , frontal bossing , biology , abnormality , genetics , chromosome , karyotype , anatomy , medicine , psychiatry , gene
We describe two unrelated patients who each have a similar chromosome 2 with duplication of 2p23 to pter, and deletion of 2q37 to qter. In one, the abnormality was derived from his mother with a pericentric inversion. Both individuals have frontal bossing; abnormally formed, low set and posteriorly rotated ears; redundant nuchal skin; inversion of the nipple(s); fleshy fingertips with prominent pads; a sacral dimple; significant developmental delay/mental retardation; and G‐tube dependency. Most of these features are present in previously described individuals with either duplication of the 2p terminus or deletion of the 2q terminus. This report is the first that documents postnatal viability of individuals with concurrent duplication of 2p and deletion of 2q, and also generation of this imbalance through rearrangement of a maternally inherited pericentrically inverted 2. This report should be considered in the reproductive counseling of individuals with pericentric inversions of chromosome 2. © 2005 Wiley‐Liss, Inc.