Table 1.
Summary of Findings in Patients with Chromosome Translocations Involving Proximal 17p
|
Breakpoints |
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| Patient | Karyotype | Chromosome 17 | Partner Chromosome | Clinical Information |
| GM03119a | 46,XX,t(9;17)(p22;q11.1) | Within D17Z1 in 17q11.1 (fig.4E) | Not mapped | A clinically normal woman with history of several spontaneous abortions |
| GM02836a | 46,XY,t(9;17)(q12;p11)[61%]/46,XY,t(9;17)(q12;p11),ins(3;1)(q21;q25q44)[39%] | Between RP11-728E14 and D17Z1 (fig. 4D) | Not mapped | A clinically normal individual |
| TIC90 | 46,XX,t(9;17)(q34.1;p11.2)mat, del(9)(q22.32q33.2) | Within two overlapping BAC clones: CTD-2354J3 and RP11-311F12 | Between RP11-489N22 and RP11-88G17 | An 11-year-old girl with Gorlin syndrome and features of nail-patella syndrome |
| UK | 46,XY,t(1;17)(p36.3;p11.2) | Distal-most 1/3 portion of clone RP11-344E13 | Within two overlapping PAC clones RP1-453P22 and RP1-505B13 | A family in which nonsyndromic mental retardation and an apparently balanced reciprocal translocation segregated in eight individuals over three generations (Hussain et al. 2000) |
| 1071 | 46,XX,t(X;17)(p22.3;p11.2) | Between RP11-728E14 and D17Z1 | Distal to the most subtelomeric BAC clone RP11-215A12 | A clinically normal 2-year-old girl, in whom balanced chromosome abnormality was found prenatally during amniocentesis (advanced maternal age) |
| 1183 | 46,XY,t(2;17)(p25.3;p11.1) | Within distal-most ∼1/4 portion of D17Z1 in 17p11.1 | Within two overlapping BAC clones RP11-455M16 and RP11-163G21 | A 9-year-old boy with mental retardation, in whom the balanced chromosome abnormality was found prenatally (advanced maternal age); a diagnosis of SMS has been excluded |
| 1307 | 46,XY/46,XY,der(X)t(X;17)(p22.1;p11.1), ∼50% mosaic | Within the middle of D17Z1 | Not mapped | A patient with clinical and electrophysiological features of the CMT1A, in whom an extra PMP22 gene resulted from a rare unbalanced translocation of 17p to the X chromosome (King et al. 1998) |
| 1576 | 46,XY,der(17)t(10;17)(q26.3;p11.2) | Within PAC clone RP1-48J12, at the centromeric end of the distal SMS-REP (fig 4F, 7) | Within overlapping BAC clones RP13-137A17 and RP13-439H18 | A 5.5-year-old boy with the features of partial trisomy 17p and monosomy 10q26.3qter, including CMT1A |
a
The skin fibroblast cell lines in patients GM03119 and GM02836 were purchased from Coriell Cell Repositories.