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Constitutional heteromorphism of 9q13→q21 in a patient with chronic myelogenous leukemia |
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| Authors: | Rawatmal B. Surana Syed K. Rafi Kevi L. Christopher Thomas J. Reid Raymond B. Weiss |
| Affiliation: | Department of Medical Genetics, Haukeland Hospital, Bergen;Department of Pediatrics, Rikshospitalet, Oslo, Norway |
| Abstract: | An apparently balanced de novo reciprocal translocation t(5;21) (q13;q22) was demonstrated in a girl with acrobrachycephaly, ventriculomegaly, pulmonary stenosis and anal malformation. The possible relationships between her karyotype and malformations are discussed. |
| Keywords: | anal stenosis chromosome 5 chromosome 21 cranial malformation Mendelian cytogenetics pulmonary stenosis submicroscopic deletion ventriculomegaly |