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Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki–Shaffer syndrome
Author(s) -
Chuang Louise,
Wakui Keiko,
Sue WheyChen,
Su MeiHsu,
Shaffer Lisa G.,
Kuo PaoLin
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.30362
Subject(s) - genetics , biology , chromosome , phenotype , homologous chromosome , karyotype , marker chromosome , mutation , gene
We report a family with inherited Potocki–Shaffer syndrome. The phenotypically normal mother has an interstitial deletion of 11(p11.12p11.2) with neocentric marker chromosome formation. The marker chromosome contains the deleted material on 11p11.2 and is likely a ring. The patient inherited a maternal deleted chromosome 11 but not the marker chromosome, thus resulting in an unbalanced karyotype along with the phenotype of Potocki–Shaffer syndrome. The deleted region in our case—11p11.12p11.2—is a newly reported site of constitutional neocentromere formation. This is also the first report describing deletion of 11p11.12‐p11.2 and neocentromere formation resulting in inherited Potocki–Shaffer syndrome. © 2005 Wiley‐Liss, Inc.