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A girl with duplication 17p10‐p12 associated with a dicentric chromosome
Author(s) -
Shaw Christine J.,
Stankiewicz Pawel,
Christodoulou John,
Smith Ellie,
Jones Kristi,
Lupski James R.
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.20355
Subject(s) - gene duplication , dicentric chromosome , genetics , biology , breakpoint , fluorescence in situ hybridization , trisomy , derivative chromosome , chromosome , centromere , chromosomal region , karyotype , gene
Abstract We report a 7½‐year‐old girl with an ∼9.5 Mb duplication of proximal 17p. Her clinical features include moderately severe developmental delay, absence of speech, talipes, congenital dislocation of the hips, premature adrenarche, dysmorphic facial features, deep palmar creases, and signs and symptoms of peripheral neuropathy consistent with Charcot–Marie–Tooth disease type 1A (CMT1A). Chromosome analysis revealed a partially duplicated 17p with two centromeres on the derivative chromosome. Fluorescence in situ hybridization (FISH) analysis demonstrated the tandemly duplicated segment spans 17p10‐p12, including the entire Smith–Magenis syndrome (SMS) critical region and a portion of the CMT1A critical region. One breakpoint mapped within the centromere and the second breakpoint mapped within the CMT1A critical region, distal to the PMP22 gene. Microsatellite polymorphism studies showed that the duplicated chromosome is of maternal origin. We compare the clinical features of our patient to those of individuals with partial trisomy of proximal 17p to further delineate the genotype–phenotype correlation associated with segmental duplication of this chromosomal region. © 2003 Wiley‐Liss, Inc.