TY - JOUR
T1 - Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
AU - Praphanphoj, Verayuth
AU - Goodman, Barbara K.
AU - Thomas, George H.
AU - Niel, Kerry M.
AU - Toomes, Carmel
AU - Dixon, Michael J.
AU - Geraghty, Michael T.
N1 - Funding Information:
We acknowledge the very important contributions to this effort made by Janet Biscoe, June Chung, Carol Miller, Susan Morsey, and Shirley Perdue, cytogenetic technicians in the Kennedy Krieger Institute laboratory. These investigations were supported in part by NICHD Mental Retardation Research Grant HD 24061.
PY - 2000/4/1
Y1 - 2000/4/1
N2 - Blepharophimosis, ptosis, epicanthus inversus syndrome type I (BPES; OMIM 110100) is an autosomal dominant disorder affecting craniofacial development and ovarian function. We have identified a patient with BPES who carried a de novo reciprocal translocation [46,XX,t(3;21)(q23;q22.1)]. Fluorescence in situ hybridization analysis at band 3q23 using probes derived from BAC 175G20 (Research Genetics), PACs 108L15 and 169C10 (RPCI1), and cosmids AC174D4, AC68D3, AC44FS, and AC125C5 (Lawrence Livermore National Laboratory) was performed. The patient's breakpoint was found to lie within the overlapping region of the BAC and PACs but centromeric to all the cosmids. However, a 10,5-kb BamHI-digested fragment, common to the BAC and PAC clones, was shown to cross the breakpoint. The results have placed our patient's breakpoint proximal to that of the previously reported patient [46,XY,t(3;4)(q23;p15.2)] and within a 10.5-kb interval. This is the second patient in which a breakpoint was refined by molecular cytogenetics. Our findings emphasize the significance of this region for BPES. (C) 2000 Academic Press.
AB - Blepharophimosis, ptosis, epicanthus inversus syndrome type I (BPES; OMIM 110100) is an autosomal dominant disorder affecting craniofacial development and ovarian function. We have identified a patient with BPES who carried a de novo reciprocal translocation [46,XX,t(3;21)(q23;q22.1)]. Fluorescence in situ hybridization analysis at band 3q23 using probes derived from BAC 175G20 (Research Genetics), PACs 108L15 and 169C10 (RPCI1), and cosmids AC174D4, AC68D3, AC44FS, and AC125C5 (Lawrence Livermore National Laboratory) was performed. The patient's breakpoint was found to lie within the overlapping region of the BAC and PACs but centromeric to all the cosmids. However, a 10,5-kb BamHI-digested fragment, common to the BAC and PAC clones, was shown to cross the breakpoint. The results have placed our patient's breakpoint proximal to that of the previously reported patient [46,XY,t(3;4)(q23;p15.2)] and within a 10.5-kb interval. This is the second patient in which a breakpoint was refined by molecular cytogenetics. Our findings emphasize the significance of this region for BPES. (C) 2000 Academic Press.
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U2 - 10.1006/geno.2000.6157
DO - 10.1006/geno.2000.6157
M3 - Article
C2 - 10777667
AN - SCOPUS:0034176655
SN - 0888-7543
VL - 65
SP - 67
EP - 69
JO - Genomics
JF - Genomics
IS - 1
ER -