Examples (pdf-format) illustrating data analysis of MLPA products

Analysis results of some of the samples that are enclosed in the RH-MLPA-Analysis program:

› P021-vs02-examples: patient

› P021-vs03-examples: normal (SMN1 to SMN2 is 2 to 0)
› P021-vs03-examples: normal
› P021-vs03-examples: carrier

› P023-vs01-examples: normal
› P023-vs01-examples: del(22q11)

› P026B-vs01-examples: normal male
› P026B-vs01-examples: NSD1 deletion

› P033-vs04-examples: normal
› P033-vs04-examples: CMT1 duplication

› P036B-vs04-examples: del(12pter)dup(17pter) same sample as P069-vs02
› P036D-vs01-examples: del(6qter) dup(12qter) same sample as P069-vs03
› P036-E1-vs01-examples: normal female
› P036-E1-vs01-examples: trisomy 21 (poor denautration or hybridization)
› P036-E1-vs01-examples: trisomy 21 (after new PCR reaction of the same DNA as above)
› P036-E1-vs02-examples: del(6qter) see same sample in P277-A1 and P069-A2

› P064B-vs02-examples: del(15q11q13)
› P064-B2-vs01-examples: normal

› P069-vs02-examples: del(12pter)dup(17pter) same sample as P036B-vs04
› P069-vs03-examples: del(6qter) dup(12qter) same sample as P036D-vs01
› P069-A2-vs01-examples: del(6qter) see same sample in P277-A1 and P036-E1

› P095-vs02-examples: normal female - example 1
› P095-vs02-examples: normal female - example 2 - too low DNA (female reference)
› P095-vs02-examples: normal female - example 2 - too low DNA (male reference)
› P095-vs02-examples: normal female - example 3 - too high slope (looks like trisomy 21)
                                  (for this sample CV of the ROX peak heights is high too!)
› P095-vs02-examples: normal female - example 3 - 2nd hybridization to improve quality
› P095-vs02-examples: normal male
› P095-vs02-examples: trisomy 13
› P095-vs02-examples: trisomy 18
› P095-vs02-examples: trisomy 21
› P095-vs02-examples: 47,XXY
› P095-vs02-examples: 69,XXY
› P095-vs03-examples: 45,X[20]/46,XX[10] mosaic
› P095-vs03-examples: 46,XX,del(18)(p11.1) partial deletion of 18p
› P095-A2-vs01-examples: trisomy-21

› P105-C1-vs01-examples: normal female
› P105-C1-vs01-examples: normal male

› P125-vs01-examples: deletion_8580_to_11531
› P125-vs01-examples: deletion_9110_to_14605

› P208-B1-vs01-examples: normal

› P230-B1-vs01-examples: normal female

› P245-vs02-examples: normal male
› P245-vs02-examples: 41 abnormal samples and some poor quality D-fragment samples can be seen by this link
› P245-A2-vs01-examples: Loss in 22q11.21

› P249-vs01-examples: normal

› P264-A1-vs01-examples: normal female

› P277-A1-vs01-examples: del(6qter) see same sample in P036-E1-vs02 and P069-A2

› P286-A1-vs01-examples: normal

› P291-A1-vs01-examples: normal male

www.chromosomelab.dk -> MLPA -> Examples