PMC5941813_01
a. Long face, left eye strabismus, bilateral hallux valgus and hammertoes. b. Array CGH and FISH: 46,XY,der(5)t(5;10)(p15.2;p13)mat. ish der(5)t(5;10)(p15.2;p13)(wcp5+,wcp10+).arr[GRCh37/hg19] 5p15.33p15.2(151737_9215425)x 1, 10p15.3p13(148,206_14,869,993)x 3 mat. c. Ideogram with the two chromosomes involved (normal and translocated). d. GTG-banding of derivative chromosomes 5 and normal chromosome 10. Note the similar pattern of banding between the derivative chromosome 5 and the corresponding normal chromosome. e. FISH with WCP5 in red and WCP10 in green
13039_2018_374_Fig1_HTML.jpg
PMC5941813_01_13039_2018_374_Fig1_HTML.jpg
Fig1
Conventional karyotype at 450-band resolution was reported as normal, however, aCGH demonstrated the presence of a 9.1 Mb deletion of chromosome 5 and a 14.8 Mb duplication of chromosome 10 [Fig. 1a-e].
PMC5941813_02
a. Long palpebral fissures, prominent antihelix, nail hypoplasia of toes and clinodactyly of the fifth finger. b. Array CGH with FISH: 46,XY,der(5)t(5;9)(p14.3;p22.1). ish der(5)t(5;9)(p14.3;p22.1)(PDCD6-,AHRR-,C5orf55-,EXOC3-,PP7080-,SLC9A3-,C9orf66+,DOCK8+,KANK1+).arr[GRCh37/hg19] 5p15.33p14.3(151737_20049770)x 1, 9p22.3p22.1(271,257_18,681,089)x 3 dn; c. Ideogram with the two chromosomes involved (normal and translocated); d. GTG-banding of chromosome 5 and 9 pairs; one of these chromosomes is the derivative 5 and the normal chromosome 9 from the patient, indicating the involved bands. e. FISH with probe located in 5p15.33 in red and probe located in 9p24.3 in green, showing the single dose of 5p and three doses of 9p
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PMC5941813_02_13039_2018_374_Fig2_HTML.jpg
Fig2
Conventional GTG karyotype was reported to be normal but aCGH showed a 19.9 Mb deletion of chromosome 5 and an 18.5 Mb duplication of chromosome 9 [Fig. 2a-e]. Fig. 2d, it is evident that the derivative chromosome 5 shows a very similar G-band pattern than the normal chromosome 5, which explains why it was not detected in the conventional karyotype despite the large segment involved in the rearrangement. FISH with the specific probes did not show a balanced chromosomal rearrangement in either parent.