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Fig. 2 | Molecular Cytogenetics

Fig. 2

From: Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China

Fig. 2

STR linkage analysis results of PWS (deletion type and UPD type) and AS (deletion type). a The distribution of nine STR locus. Seven STR loci alleles are located in the typical PWS/AS deletion region of BP1 to BP3, and the remaining two are located in the distal region near the telomere. Cen: centromere; Tel: telomere; BP: breakpoint. b Linkage analysis of Case 18 showing the PWS patient has the paternal deletion mutation of chromosome 15 fragment (STR D15S128, D15S646, D15S817, D15S822). c Linkage analysis of Case 19 showing the PWS patient carries mixed segmental isoUPD and heteroUPD of maternal chromosome 15 fragment (STR D15S128, GABRB3, D15S659). d Linkage analysis of Case 40 showing the AS patient has the maternal deletion mutation of chromosome 15 fragment (STR D15S1513, GABRB3, D15S822)

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Molecular Cytogenetics

ISSN: 1755-8166