{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T15:43:05Z","timestamp":1762098185207},"reference-count":43,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,6,16]],"date-time":"2003-06-16T00:00:00Z","timestamp":1055721600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a 7\u00bd\u2010year\u2010old girl with an \u223c9.5 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\u2013Marie\u2013Tooth 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\u2010p12, including the entire Smith\u2013Magenis 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 <jats:italic>PMP22<\/jats:italic> 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\u2013phenotype correlation associated with segmental duplication of this chromosomal region. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20355","type":"journal-article","created":{"date-parts":[[2003,12,25]],"date-time":"2003-12-25T09:00:29Z","timestamp":1072342829000},"page":"173-178","source":"Crossref","is-referenced-by-count":8,"title":["A girl with duplication 17p10\u2010p12 associated with a dicentric chromosome"],"prefix":"10.1002","volume":"124A","author":[{"given":"Christine 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