title: Triplication of 1q in Fanconi anemia.
abstract: We report herein a 38-year-old male patient with Fanconi anemia but with few phenotypic manifestations--short stature, sterility, and hypoplasic anemia with several years of evolution-who developed a myelodysplastic syndrome (MDS). Bone marrow karyotype showed long arm triplication of chromosome 1 (q12-21q31-q32), and two markers add(11)(p15) and add(21)(q22) which had extra material of chromosome 3 besides the normal chromosome 3 pair. Peripheral blood showed chromosome instability; SCE was normal. Both the patient and his family showed a high prevalence of malignant diseases. 1q duplication and, in a few cases, triplication of 1q has been related to Fanconi anemia, being of unknown significance.
authors.affiliation: Medical Genetics Department, University Hospital Ramón y Cajal, Carretera de Colmenar Km 9.100. 28034-Madrid, Spain. tferro@hrc.insalud.es
authors.forename: M T
authors.initials: MT
authors.lastname: Ferro
authors.forename: Y
authors.initials: Y
authors.lastname: Vazquez-Mazariego
authors.forename: S
authors.initials: S
authors.lastname: Ramiro
authors.forename: M C
authors.initials: MC
authors.lastname: Sanchez-Hombre
authors.forename: C
authors.initials: C
authors.lastname: Villalon
authors.forename: J M
authors.initials: JM
authors.lastname: Garcia-Sagredo
authors.forename: C
authors.initials: C
authors.lastname: Ulibarrena
authors.forename: J L
authors.initials: JL
authors.lastname: Sastre
authors.forename: C S
authors.initials: CS
authors.lastname: Roman
mesh_terms: D000328:Adult; D001853:Bone Marrow / Q000473:pathology; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D020732:Cytogenetic Analysis; D005199:Fanconi Anemia / Q000235:genetics*; D006801:Humans; D008297:Male; D012854:Sister Chromatid Exchange