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Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki–Lupski syndrome
Author(s) -
Magoulas Pilar L.,
Liu Pengfei,
Gelowani Violet,
SolerAlfonso Claudia,
Kivuva Emma C.,
Lupski James R.,
Potocki Lorraine
Publication year - 2014
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.36287
Subject(s) - dup , phenotype , biology , genetics , gene duplication , gene
ABSTRACT Potocki–Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, intellectual disability, and behavior abnormalities, the latter of which can include autism spectrum disorder. The majority of individuals with PTLS harbor a de novo microduplication of chromosome 17p11.2 reciprocal to the common recurrent 3.6 Mb microdeletion in the Smith–Magenis syndrome critical region. Here, we report on the transmission of the PTLS duplication across two generations in two separate families. Individuals in these families presented initially with developmental delay, behavior problems, and intellectual disability. We provide a detailed review of the clinical and developmental phenotype of inherited PTLS in both families. This represents the second report (second and third families) of PTLS in a parent–child pair and exemplifies the under‐diagnosis of this and likely other genetic conditions in adults with intellectual disability and/or psychiatric disorders. © 2013 Wiley Periodicals, Inc.