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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2)

Fig. 2

a Karyogram of a patient IV/21 with intellectual disability and a karyotype 46,XY,der(7)t(7;17)(p22;p13.2). The arrow indicates the abnormal chromosome 7. b Metaphase spread of the patient IV/21 stained using FISH technique with a probe specific for the critical region of Miller–Dieker syndrome (17p13.3—LIS1, red) and the critical region of Smith–Magenis syndrome (17p11.2—RAI1, green). Both signals are visible on short arms of both chromosomes 17. An additional, third LIS1 signal is visible on chromosome 7 short arm. The arrow indicates abnormal chromosome 7. c Metaphase spread of the patient IV/21 stained using FISH technique with a probe specific for the subtelomere of chromosome 7 short arm (red) and a probe specific for the subtelomere of chromosome 17 short arm (green). The arrow indicates abnormal chromosome 7 with two red/green signals from chromosome 7 and chromosome 17 subtelomeres. d Metaphase spread of the aforementioned patient (IV/21) stained using FISH technique with a probe specific for TP53 gene (17p13.1, red) and chromosome 17 centromere (green). These two signals are present on both chromosomes 17

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