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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)
Author(s) -
Giardino Daniela,
Finelli Palma,
Gottardi Giulietta,
De Canal Gabriella,
Monica Matteo Della,
Lonardo Fortunato,
Scarano Gioacchino,
Larizza Lidia
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20287
Subject(s) - breakpoint , brachydactyly , subtelomere , short stature , chromosomal translocation , genetics , monosomy , gene mapping , biology , chromosome , karyotype , gene , endocrinology
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. © 2003 Wiley‐Liss, Inc.