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pubmed-article:8249950pubmed:abstractTextThe association of Apert syndrome with a translocation (2p-;Cq+) was previously reported in this journal. On reexamination using high-resolution chromosome banding, results showed both the patient and her unaffected father carry the balanced translocation (2;9)(p11.2;q34.2). This finding suggests the rearrangement is unlikely to be the cause of her disorder. Other chromosomal anomalies and genes known to be located at or near these breakpoints and a cytogenetic survey of patients with Apert syndrome are reviewed.lld:pubmed
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pubmed-article:8249950pubmed:dateRevised2007-11-14lld:pubmed
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pubmed-article:8249950pubmed:articleTitleCytogenetic survey of Apert syndrome. Reevaluation of a translocation (2;9)(p11.2;q34.2) in a patient suggests the breakpoints are not related to the disorder.lld:pubmed
pubmed-article:8249950pubmed:affiliationDepartment of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21287-3914.lld:pubmed
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pubmed-article:8249950pubmed:publicationTypeResearch Support, U.S. Gov't, P.H.S.lld:pubmed
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