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Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1‐5q31.3 in ten unbalanced carriers
Author(s) -
Arens Y.H.J.M.,
Engelen J.J.M.,
Govaerts L.C.P.,
van Ravenswaay C.M.,
Loneus W.H.,
van LentAlbrechts J.C.M.,
van der BlijPhilipsen M.,
Hamers A.J.H.,
SchranderStumpel C.T.R.M.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20568
Subject(s) - gene duplication , chromosomal translocation , genetics , proband , derivative chromosome , chromosome , microdissection , biology , psychomotor retardation , karyotype , chromosomal rearrangement , chromosome 15 , medicine , gene , mutation , pathology , alternative medicine
We report on the clinical and cytogenetic data of a large family with an unbalanced insertion translocation (3;5)(q25.3;q22.1q31.3). Analysis of GTG‐banded chromosomes demonstrated that unbalanced inheritance of a parental insertion translocation caused either a partial deletion or duplication 5q in this family. The derivative chromosomes were characterized further using microdissection and FISH with band‐specific probes. The clinical picture of the proband with a partial deletion of chromosome 5 was characterized by moderate psychomotor retardation, mild facial dysmorphism, cleft palate, and single transverse crease. The family members with a partial duplication of chromosome 5 were borderline intelligent, had mild facial dysmorphism, a cardiac anomaly, and a high‐pitched voice. The unbalanced carriers were compared with patients reported in the literature with a duplication or deletion of chromosome region 5q22.1 → 5q31.3. © 2004 Wiley‐Liss, Inc.
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