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De novo t(4;5) (q3100; q2200) with del(5)(q1500q2200). Tentative delineation of a 5q monosomy syndrome and assignment of the critical segment
Author(s) -
Rivera Horacio,
Rolón Araceli,
SánchezCorona José,
Cantú José María
Publication year - 1985
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1985.tb00193.x
Subject(s) - monosomy , psychomotor retardation , psychomotor learning , genetics , aneuploidy , phenotype , biology , medicine , pediatrics , karyotype , pathology , chromosome , neuroscience , gene , alternative medicine , cognition
An 8‐month‐old boy with multiple malformations and psychomotor retardation was found to have a de novo t(4;5)(q3100;q2200) with del(5)(ql500q2200). 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 5ql5 as the correspondent critical segment.