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De novo paracentric inversion (X)(q26q28) with features mimicking Prader–Willi syndrome
Author(s) -
Florez Luisa,
Anderson Mary,
Lacassie Yves
Publication year - 2003
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.20129
Subject(s) - chromosomal inversion , uniparental disomy , genetics , genetic syndromes , biology , medicine , chromosome , pediatrics , gene , karyotype
Different genetic and non‐genetic disorders, including several chromosomal abnormalities, may mimic Prader–Willi syndrome (PWS). We report on an 11‐year‐old girl with features reminiscent of PWS due to an unreported de novo paracentric inversion Xq26q28. Microdeletion 15q11‐q13 and maternal uniparental disomy 15 were ruled out. The importance of chromosomal studies in addition to molecular analysis on patients with features suggestive of PWS is stressed. © 2003 Wiley‐Liss, Inc.