title: [Partial trisomy 1q25-1q32 in a boy with isolated lactase deficiency].
abstract: A six-month-old boy with partial trisomia 1q25-1q32. In the phenotype psychomotor retardation, progeric facial features and general dystrophy dominated. He failed to thrive partly because of milk intolerance due to hypolactasia. This disorder was revealed by histochemical examination of the enterobioptic material. The chromosomal aberration developed as a result of tandem duplication of section 1q25-1q32 de novo; this finding was not published so far in the literature.
authors.affiliation: Oddĕlení lékarské genetiky Fakultní nemocnice 2 s fakultní poliklinikou, Praha.
authors.forename: Y
authors.initials: Y
authors.lastname: Franková
authors.forename: J
authors.initials: J
authors.lastname: Zeman
authors.forename: B
authors.initials: B
authors.lastname: Mejsnarová
authors.forename: M
authors.initials: M
authors.lastname: Stloukalová
authors.forename: J
authors.initials: J
authors.lastname: Pajerek
mesh_terms: D002878:Chromosomes, Human, Pair 1; D006801:Humans; D007223:Infant; D043322:Lactase; D008297:Male; D010375:Pedigree; D014314:Trisomy; D001616:beta-Galactosidase / Q000172:deficiency* / Q000235:genetics
chemical_list: D043322:Lactase; D001616:beta-Galactosidase
vernacular_title: Parciální trisomie 1q25-1q32 u chlapce s izolovaným deficitem laktázy.