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Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter
Author(s) -
Tirado Carlos A.,
Henderson Samuel,
Uddin Naseem,
Stewart Ewa,
Iyer Santha,
Ratner Ian M.,
Matthews Erin,
Doolittle Jeffrey,
Garcia Rolando,
Valdez Federico,
Dallaire Stephanie,
Appleberry Taylor,
Payne Deborah,
Collins Robert
Publication year - 2009
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.33080
Subject(s) - dup , partial trisomy , gene duplication , chromosomal translocation , trisomy , genetics , terminal (telecommunication) , monosomy , biology , phenotype , karyotype , chromosome , gene , computer science , telecommunications
Partial trisomy 2p is typically associated with partial monosomy of another chromosomal segment and results from a balanced translocation in one of the parents. Inverted duplications with terminal deletions have been reported in an increasing number of chromosomes. Several cases initially interpreted as terminal duplications have instead been documented to represent inverted duplications with terminal deletions. Inv dup del(2p) has been reported in patients who manifest the clinical findings of trisomy 2p syndrome. Here we report on a 2‐month‐old girl with inv dup del(2p) and clinical manifestations that overlap those found commonly in partial 2p trisomy, as previously reported in the literature. Her clinical picture helps delineate the phenotype of 2p duplication disorders. © 2009 Wiley‐Liss, Inc.