PMC3535200_01
Partial karyotypes showing chromosome pairs 4 and 14, which are involved in the translocation. Patients in both cases had an extra der(14)t(4;14)(p15.3;q12) (arrowheads), which was found to be inherited as a consequence of an unbalanced 3:1 segregation from a carrier mother who had a balanced 46,XX,t(4;14)(p15.3;q12) translocation. Arrows indicate the breakpoints on each chromosome (GTG banding, 550 bands).
alm-33-69-g001.jpg
PMC3535200_02_alm-33-69-g001.jpg
F1
In the chromosome study, 47,XX,+mar was detected in all metaphase cells from the patient, and from a subsequent family study (GTG banding, 550 bands), her mother was identified as a balanced translocation carrier with t(4;14)(p15.3;q12) (Fig. 1).
Microarray results for both cases. (A) Case 1 had an approximately 19 megabase (Mb) gain from 4pter to p15.31 (19,350,350 bp point) and an approximately 31 Mb gain from 14pter to q12 (31, 088,843 bp point). (B) Case 2 had an approximately 19 Mb gain from 4pter to p15.31 (19,351,869 bp point) and an approximately 31 Mb gain from 14pter to q12 (31,098,692 bp point). Arrowheads indicate segments with a signal gain in each chromosome plot (Affymetrix Cytogenetics 2.7 M array).. Abbreviation: Chr, chromosome.
alm-33-69-g002.jpg
PMC3535200_02_alm-33-69-g002.jpg
F2
Affymetrix cytogenetic array analysis detected an approximately 19 Mb addition from 4pter to p15.31 (19,351,869 bp point) and an approximately 31 Mb addition from 14pter to q12 (31,098,692 bp point) in the patient (Fig. 2).
FISH results showing partial trisomy of 4p. Three orange signals for 4p16.3 were found on 2 chromosome 4p (arrows) and on a der(14) chromosome (arrowheads) in both patients (A, B). FISH analysis was performed using a dual color, dual fusion fibroblast growth factor receptor 3 on 4p 16.3 (orange)/immunoglobulin heavy chain on 14q32 (green) probe for detection of A B trisomy 4p.
alm-33-69-g003.jpg
PMC3535200_02_alm-33-69-g003.jpg
F3
FISH analysis, using a probe for 4p16.3, revealed an additional 4p signal on the marker chromosome (Fig. 3).
PMC3535200_02
Partial karyotypes showing chromosome pairs 4 and 14, which are involved in the translocation. Patients in both cases had an extra der(14)t(4;14)(p15.3;q12) (arrowheads), which was found to be inherited as a consequence of an unbalanced 3:1 segregation from a carrier mother who had a balanced 46,XX,t(4;14)(p15.3;q12) translocation. Arrows indicate the breakpoints on each chromosome (GTG banding, 550 bands).
alm-33-69-g001.jpg
PMC3535200_02_alm-33-69-g001.jpg
F1
In the chromosome study, 47,XX,+mar was detected in all metaphase cells from the patient, and from a subsequent family study (GTG banding, 550 bands), her mother was identified as a balanced translocation carrier with t(4;14)(p15.3;q12) (Fig. 1).
Microarray results for both cases. (A) Case 1 had an approximately 19 megabase (Mb) gain from 4pter to p15.31 (19,350,350 bp point) and an approximately 31 Mb gain from 14pter to q12 (31, 088,843 bp point). (B) Case 2 had an approximately 19 Mb gain from 4pter to p15.31 (19,351,869 bp point) and an approximately 31 Mb gain from 14pter to q12 (31,098,692 bp point). Arrowheads indicate segments with a signal gain in each chromosome plot (Affymetrix Cytogenetics 2.7 M array).. Abbreviation: Chr, chromosome.
alm-33-69-g002.jpg
PMC3535200_02_alm-33-69-g002.jpg
F2
Affymetrix cytogenetic array analysis detected an approximately 19 Mb addition from 4pter to p15.31 (19,351,869 bp point) and an approximately 31 Mb addition from 14pter to q12 (31,098,692 bp point) in the patient (Fig. 2).
FISH results showing partial trisomy of 4p. Three orange signals for 4p16.3 were found on 2 chromosome 4p (arrows) and on a der(14) chromosome (arrowheads) in both patients (A, B). FISH analysis was performed using a dual color, dual fusion fibroblast growth factor receptor 3 on 4p 16.3 (orange)/immunoglobulin heavy chain on 14q32 (green) probe for detection of A B trisomy 4p.
alm-33-69-g003.jpg
PMC3535200_02_alm-33-69-g003.jpg
F3
FISH analysis, using a probe for 4p16.3, revealed an additional 4p signal on the marker chromosome (Fig. 3).
The abnormal toes of case 2. The fourth toes on both feet were short, and the big toes were relatively thick.
alm-33-69-g004.jpg
PMC3535200_02_alm-33-69-g004.jpg
F4
The 4th toes on both sides were short, and both big toes were relatively thick (Fig. 4).