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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Sanger sequencing in exonic regions of STK11 gene uncovers a novel de-novo germline mutation (c.962_963delCC) associated with Peutz-Jeghers syndrome and elevated cancer risk: case report of a Chinese patient

Fig. 1

Genogram, pathology and electropherogram of the index patient. a The genogram showed an isolated PJS patient. Roman numerals indicate generations and Arabic numbers indicate individuals. Squares = males, circles = females. Affected individuals are denoted by solid symbols and unaffected individuals are denoted by open symbols. The index patient is indicated by an arrow. b Representative hematoxylin-eosin-stained tissue slices of the GI polyp biopsy specimens showed carcinoma infiltration. Up, ×100 magnification; low, ×400 magnification. c The structure of STK11 gene. This novel mutation is within exon 8. d Sanger sequencing with the help of T vector assay revealed a heterozygous frameshift mutation, c.962_963delCC

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BMC Medical Genetics

ISSN: 1471-2350

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