title: Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7).
abstract: We present two brothers with mental retardation, seizures disorder, generalized muscular hypertonia, kyphoscoliosis, minor anomalies and a prominent midface. GTG-banded chromosome analysis showed a derivative chromosome 14 without clues toward the origin of the rearrangement. Microdissection of the derivative chromosome 14 and subsequent reverse painting demonstrated partial trisomy 7q32-q34 as the unbalanced product of a maternal insertion (14;7). Thus, we identified two cases with pure trisomy 7q32-q34 that allowed further delineation of this aneusomy syndrome.
authors.affiliation: Institut für Medizinische Biologie und Humangenetik, Universität Innsbruck, Innsbruck, Austria.
authors.forename: J
authors.initials: J
authors.lastname: Löffler
authors.forename: B
authors.initials: B
authors.lastname: Utermann
authors.forename: H C
authors.initials: HC
authors.lastname: Duba
authors.forename: U
authors.initials: U
authors.lastname: Mayr
authors.forename: G
authors.initials: G
authors.lastname: Utermann
authors.forename: M
authors.initials: M
authors.lastname: Erdel
mesh_terms: D000328:Adult; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D016254:Mutagenesis, Insertional; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000235:genetics*; D014314:Trisomy