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Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-31566

Paskulin, G A; Riegel, M; Cotter, P D; Kiss, A; Rosa, R F M; Zen, P R G; Mombach, R; Graziadio, C (2009). Inv dup del(4)(:p13 → p16.3::p16.3 → qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome. American Journal of Medical Genetics Part A, 149A(6):1302-1307.

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We report on a 4-year-old girl who presented with microcephaly, multiple minor anomalies of face and limbs, congenital heart defect, hypotonia, neuropsychomotor delay, deafness and seizures. A GTG-banded karyotype identified an additional fragment of unknown origin on the terminal region of 4p. Parental karyotypes were normal. FISH analysis using a whole chromosome paint probe for chromosome 4 and subtelomere probes showed a signal on the entire add (4) chromosome and loss of the 4p subtelomere region, respectively. Additional analysis using microsatellite markers for chromosome 4 and whole-genome array comparative genomic hybridization (array-CGH) identified a duplication of the region 4p13 4p16.3. Her karyotype was thus interpreted as an inverted duplication with terminal deletion of 4p: 46,XX,der(4)(:p13 p16.3::p16.3 qter). The clinical features of our patient differed from those typically observed in Wolf-Hirschhorn syndrome and were more compatible with duplication 4(p14 p16.3), with preservation of the WHS critical region.


8 citations in Web of Science®
8 citations in Scopus®
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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Deposited On:19 Feb 2010 13:21
Last Modified:05 Apr 2016 13:58
Publisher DOI:10.1002/ajmg.a.32888

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