Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multip...
Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome
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Heidelberg: Springer
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Language
English
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Publisher
Heidelberg: Springer
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We report a child with a de novo interstitial deletion, 46,XY, int del(9)(9q22.31-q31.2). Cytogenetic and molecular analysis defined the boundaries of the lost region, of paternal origin, from D9S1796 to D9S938. The clinical picture included macrocephaly, frontal bossing, bilateral epicanthus, down-slanted palpebral fissures, low-set ears, hypoplas...
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Full title
Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome
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TN_cdi_proquest_miscellaneous_72979223
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_72979223
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ISSN
0340-6199
E-ISSN
1432-1076
DOI
10.1007/s00431-002-1116-4
