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Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3-->q31.3). 1993
A Jeziorowska, and
W Ciesla, and
G E Houck, and
X L Yao, and
M S Harris, and
B Truszczak, and
M Skorski, and
L Jakubowski, and
E C Jenkins, and
B Kaluzewski
Department of Genetics, Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314.
We report on a 3-year-old boy with moderate developmental retardation, microcephaly, and malformations of ears, lids, mouth, and thumbs. Cytogenetic analysis demonstrated a direct duplication of chromosome subregion 4(q21.3-->q31.3). Confirmation of this specific rearrangement was performed by fluorescent in situ hybridization (FISH) with a chromosome painting probe and by means of quantitative Southern hybridization with DNA probes localized within the chromosome 4 region presumed to be duplicated.
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