Trisomy 9q3 syndrome: a case report and review of the literature
- 1 April 1989
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 35 (4) , 293-298
- https://doi.org/10.1111/j.1399-0004.1989.tb02947.x
Abstract
A girl with partial trisomy 9q is reported. She was characterized by dolichomorphism, abnormalities of the digits, a cardiac defect and craniofacial dysmorphism. A high‐resolution analysis revealed the karyotype to be: 46,XX,‐3,+der(3)t(3;9)(q29;q13) de novo. A phenotype‐karyo‐type correlation study in 22 cases of partial trisomies 9q supported the delineation of a trisomy 9q3 syndrome. The smallest region of overlap was confined to 9q32.Keywords
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