Triplication of 1q in Fanconi anemia.
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.
Ferro
M T
MT
Medical Genetics Department, University Hospital Ramón y Cajal, Carretera de Colmenar Km 9.100. 28034-Madrid, Spain. tferro@hrc.insalud.es
Vazquez-Mazariego
Y
Y
Ramiro
S
S
Sanchez-Hombre
M C
MC
Villalon
C
C
Garcia-Sagredo
J M
JM
Ulibarrena
C
C
Sastre
J L
JL
Roman
C S
CS
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