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Fig. 1 | Molecular Cytogenetics

Fig. 1

From: Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature

Fig. 1

The appearance, karyotyping, FISH and DNA fingerprinting results for patient 1. a Frontal view of patient 1 displays some facial dysmorphism, including ocular hypertelorism, nystagmus and uneven pigmentation. b Deeper pigmentation on the buttocks and back. c Partial karyotype by G-banding showing three extra idic(15) regions (red arrow) d FISH analysis using D15Z1 (green arrow) and D15S11 (red arrow) showing that each idic(15) has two green hybridization signals and two red hybridization signals. A normal chromosome 15 has one green and one red hybridization signal. e and f Electropherograms of the markers D15S156 (e) and D15S219 (f) in the father, children and mother (top to bottom). The children have three different alleles of D15S156 and D15S219. e The informative marker of D15S156 shows two different maternal alleles (206 and 224) and one paternal allele (212), indicating that the duplicated region of patient 1 was maternal. f The informative marker of D15S219 shows two different maternal alleles (308 and 310) and one paternal allele (299), again illustrating that the duplicated region was maternal

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Molecular Cytogenetics

ISSN: 1755-8166