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Trisomy 17p10‐p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype
Author(s) -
Stankiewicz P,
Park SS,
Holder SE,
Waters CS,
Palmer RW,
Berend SA,
Shaffer LG,
Potocki L,
Lupski JR
Publication year - 2001
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2001.600503.x
Subject(s) - biology , hypotonia , marker chromosome , genetics , small supernumerary marker chromosome , fluorescence in situ hybridization , trisomy , supernumerary , breakpoint , monosomy , chromosome , chromosome 15 , chromosome 17 (human) , chromosome 21 , chromosome 22 , gene duplication , karyotype , gene , anatomy
We report a 5‐year‐old boy with a small de novo marker chromosome derived from the proximal short arm of chromosome 17. His clinical features include hypotonia, global developmental delay, oval face with large nose and prominent ears, and ligamentous laxity of the fingers. Magnetic resonance imaging of the brain demonstrated mildly delayed myelination. G‐band chromosome analysis revealed mosaicism for a small marker chromosome in 85% of the peripheral blood cells analyzed. Fluorescence in situ hybridization and microsatellite polymorphism studies showed that the der(17) was of maternal origin and included genetic material from the 17p10‐p12 region, but did not contain the PMP22 gene. One breakpoint mapped within the centromere and the second breakpoint mapped adjacent to the Charcot–Marie–Tooth disease type 1A proximal low‐copy repeat (CMT1A‐REP). We compare the clinical characteristics of our patient with those previously reported to have a duplication involving the proximal short arm region of chromosome 17 to further delineate the phenotype of trisomy 17p10‐p12.