An unusual clinical characterization of a male with distal partial trisomy 1q42.1 and monosomy 4q35.1 and review of the literature

Wang, C.B.; Lin, S.P.; Chen, C.P.; Chen, Y.J.; Lee, C.C.; Wang, C.B; Lin, S.P; Chen, C.P; Chen, Y.J; Lee, C.C

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An unusual clinical characterization of a male with distal partial trisomy 1q42.1 and monosomy 4q35.1 and review of the literature

Wang, C.B.; Lin, S.P.; Chen, C.P.; Chen, Y.J.; Lee, C.C.

Genetic Counseling 17(4): 435-440

2006

ISSN/ISBN: 1015-8146

PMID: 17375530

Document Number: 601717

We report a male patient with a karyotype of 46,XY, der(4)t(1;4)(q42.1;q35.1) inherited from a maternal balanced translocation involving chromosome 1q and 4q. The boy had corpus callosum dysgenesis, laryngomalacia, tracheobronchus, facial dysmorphism, simian creases, and developmental retardation. The first three features are unique compared to previous literature reports on distal partial trisomy 1q. This case report allows a further delineation of the distal partial trisomy 1q syndrome.