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)

Daniela Giardino, Palma Finelli, Giulietta Gottardi, Gabriella De Canal, Matteo Della Monica, Fortunato Lonardo, Gioacchino Scarano, Lidia Larizza

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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.

Original languageEnglish
Pages (from-to)261-265
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume122 A
Issue number3
Publication statusPublished - Oct 15 2003

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Keywords

  • 2qter deletion
  • 6q partial trisomy
  • AHO-like syndrome
  • Candidate gene region

ASJC Scopus subject areas

  • Genetics(clinical)

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