title: Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26).
abstract: We here describe a submicroscopic translocation affecting the subtelomeric regions of chromosomes 2q and 6q identified in a patient referred to us because of mental retardation, obesity, brachydactyly, and short stature. FISH analysis using subtelomeric probes showed a 46,XY,der(2)t(2;6)(q37.3;q26) in the propositus, and a balanced t(2;6) in his father and sister. FISH with region-specific genomic clones made it possible to map the 2q37.3 breakpoint precisely to the region covered by BAC 585E12, and the 6q26 breakpoint to between the regions encompassed by 414A5 and 480A20. The 2q subtelomeric deletion has often been found in patients with Albright hereditary osteodystrophy (AHO)-like syndrome but, to the best of our knowledge, the 2q37.3-qter monosomy ascertained in our patient is the smallest so far described within the syndrome's critical interval, and may thus enhance the search for the responsible genes.
authors.affiliation: Laboratorio di Citogenetica, Istituto Auxologico Italiano, Via Ariosto 13, 20145 Milan, Italy. giardino@auxologico.it
authors.forename: Daniela
authors.initials: D
authors.lastname: Giardino
authors.forename: Palma
authors.initials: P
authors.lastname: Finelli
authors.forename: Giulietta
authors.initials: G
authors.lastname: Gottardi
authors.forename: Gabriella
authors.initials: G
authors.lastname: De Canal
authors.forename: Matteo
authors.initials: M
authors.lastname: Della Monica
authors.forename: Fortunato
authors.initials: F
authors.lastname: Lonardo
authors.forename: Gioacchino
authors.initials: G
authors.lastname: Scarano
authors.forename: Lidia
authors.initials: L
authors.lastname: Larizza
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005359:Fibrous Dysplasia, Polyostotic / Q000473:pathology*; D006228:Hand Deformities, Congenital / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D018895:Microsatellite Repeats; D009765:Obesity / Q000473:pathology; D013577:Syndrome; D014178:Translocation, Genetic