De novo t(4;5) (q3100; q2200) with del(5)(q1500q2200). Tentative delineation of a 5q monosomy syndrome and assignment of the critical segment
- 23 April 2008
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 27 (1) , 105-109
- https://doi.org/10.1111/j.1399-0004.1985.tb00193.x
Abstract
An 8-month-old boy with multiple malformations and psychomotor retardation was found to have a de novo t(4;5)(q1300;q2200) with del(5)(q1500q2200). The phenotypical comparison with 10 similar monosomic cases from the literature led us to tentatively delineate a 5q monosomy syndrome and to postulate the band 5q15 as the correspondent critical segment.Keywords
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