PMC4912789_01
Pedigree of the family transmitting Rob translocation chromosome t(14; 15)(q10;q10) Open hexagon designates a presumed carrier of t(14; 15)(q10;q10). Filled hexagon designates a known carrier of t(14;15)(q10;q10). The proband, IV-1 (arrow), has disomy t(14;15)(q10;q10). The proband's wife, IV-2, had a normal karyotype. Their deceased son, V-1, was a carrier of karyotype 45,XY,der(14;15)(q10;q10)
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Fig1
Their parents, a mutual uncle and both grandparents were not available for cytogenetic analysis (Fig. 1).
Karyotype of the proband with 44,XY,der(14;15)(q10;q10),der(14;15)(q10;q10) chromosomal constitution The arrows indicated disomy of chromosome der(14;15)
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Fig2
The previously undescribed karyotype, 44,XY,der(14;15)(q10;q10), der(14;15)(q10;q10), was further authenticated by the Chinese Academic Committee of the State Key Laboratory of Medical Genetics (Fig. 2).
aCGH analysis of IV-1 revealed a 2.03 Mb duplication at chromosome 15 q11.1-q11.2 (arr 15q11.1q11.2(20,481,702-22,509,254)x4)
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Fig3
The aCGH analysis on IV-1 detected a 2.03 Mb duplication in the region of q11.1-q11.2 on chromosome 15 (Fig. 3).
Sperm cells after hybridization with TelVysion 14q32.33 (Spectrum Red) and TelVysion 15q26.3 (Spectrum Green). The sperm with red arrow may be a diploid sperm
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Fig4
As shown in Fig. 4, the arrow pointed a sperm with four fluorescence signals (two red and two green) suggesting this sperm has two derivative chromosomes of der(14;15).