TY - JOUR
T1 - Clinical and molecular characterization of patients with distal 11q deletions
AU - Penny, L. A.
AU - Dell'Aquila, M.
AU - Jones, M. C.
AU - Bergoffen, J.
AU - Cunniff, C.
AU - Fryns -, J. P.
AU - Grace, E.
AU - Graham, J. M.
AU - Kousseff, B.
AU - Mattina, T.
AU - Syme, J.
AU - Voullaire, L.
AU - Zelante, L.
AU - Zenger-Hain, J.
AU - Jones, O. W.
AU - Evans, G. A.
PY - 1995
Y1 - 1995
N2 - Jacobsen syndrome is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects, and thrombocytopenia, though none of these features are invariably present. To define the critical regions responsible for these abnormalities, we studied 17 individuals with de novo terminal deletions of 11q. The patients were characterized in a loss-of-heterozygosity analysis using polymorphic dinucleotide repents. The breakpoints in the complete two-generation families were localized with an average resolution of 3.9 cM. Eight patients with the largest deletions extending from 11q23.3 to 11qter have breakpoints, between D11S924 and D11S1341. This cytogenetic region accounts for the majority of 11q- patients and may be related to the FRA11B fragile site in 11q23.3. One patient with a small terminal deletion distal to D11S1351 had facial dysmorphism, cardiac defects, and thrombocytopenia, suggesting that the genes responsible for these features may lie distal to D11S1351. Twelve of 15 patients with deletion breakpoints as far distal as D11S1345 had trigonocephaly, while patients with deletions distal to D11S912 did not, suggesting that, if hemizygosity for a single gene is responsible for this dysmorphic feature, the gene may lie distal to D11S1345 and proximal to D11S912.
AB - Jacobsen syndrome is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects, and thrombocytopenia, though none of these features are invariably present. To define the critical regions responsible for these abnormalities, we studied 17 individuals with de novo terminal deletions of 11q. The patients were characterized in a loss-of-heterozygosity analysis using polymorphic dinucleotide repents. The breakpoints in the complete two-generation families were localized with an average resolution of 3.9 cM. Eight patients with the largest deletions extending from 11q23.3 to 11qter have breakpoints, between D11S924 and D11S1341. This cytogenetic region accounts for the majority of 11q- patients and may be related to the FRA11B fragile site in 11q23.3. One patient with a small terminal deletion distal to D11S1351 had facial dysmorphism, cardiac defects, and thrombocytopenia, suggesting that the genes responsible for these features may lie distal to D11S1351. Twelve of 15 patients with deletion breakpoints as far distal as D11S1345 had trigonocephaly, while patients with deletions distal to D11S912 did not, suggesting that, if hemizygosity for a single gene is responsible for this dysmorphic feature, the gene may lie distal to D11S1345 and proximal to D11S912.
UR - http://www.scopus.com/inward/record.url?scp=0028910140&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028910140&partnerID=8YFLogxK
M3 - Article
C2 - 7887422
AN - SCOPUS:0028910140
SN - 0002-9297
VL - 56
SP - 676
EP - 683
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 3
ER -