Skip to main content

Table 2 Transcription study of the selected gene sets relevant in haematopoiesis, leukaemogenesis and myeloid differentiation, identified as 1, 2, and 3 and described in the Results Section: comparison of the results obtained in patients with clonal anomalies (Table 1), grouped here as A and B. Group A includes most healthy controls and Group B all SDS-NK patients. Patient UPN 92, with AML and complex karyotype is not included in the Table, because her expression profile was different from all other subjects investigated and outside the groups identified

From: Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype

Samplea

Anomaly – %b

Gene Set 1

Gene Set 2

Gene set 3

Group

Group

Group

A

B

A

B

A

B

UPN 6–2014

del (20) – 44%

 

 

 

UPN 13–2015

del (20) – 12%

 

 

 

UPN 13–2017

del (20) – 52%

 

 

 

UPN 20–2013

del (20) – 68%

 

 

 

UPN 20–2015

del (20) – 60%

  

 

UPN 20–2017

del (20) – 76%

 

 

 

UPN 24–2009

i (7)(q10) – 30%

 

 

 

UPN 58–2014

der(16)t(1;16) – 17%

 

 

 

UPN 58–2017

der(16)t(1;16) – 15%

 

 

 

UPN 68–2016

del (20) – 19%

  

 

UPN 85–2015

del (20) – 14%

 

 

 

UPN 85–2016

del (20)

 

 

 

UPN 85–2017

del (20) – 11%

 

 

 

  1. aSee Table 1
  2. bClonal anomaly in short - % abnormal cells