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

Table 1 Clonal chromosome anomalies in BM, and percentage of abnormal cells at the date of sampling for RNA study

Patient UPN	Sample^a	anomaly	% abnormal cells
6	2014	del (20)(q11.21q13.13)	44%^e
13	2015	del (20)(q11.21q13.32)	12%^e
13	2017	del (20)(q11.21q13.13)	52%^f
20	2013	del (20)(q11.21q13.32)^b	68%^f
	2015		60%^f
	2017		76%^f
24	2009	i (7)(q10)	30%^f
58	2014	der(16)t(1;16)(q21;q23)	17%^f
58	2017	der(16)t(1;16)(q21;q23)	15%^f
68	2016	del (20)(q11.21q13.12) del (20)(q13.12q13.13)^c	19%^f
85	2015	del (20)(q11.21q11.23)	14%^f
	2016		–
	2017		11%^e
92	2017	complex karyotype^d	83%^g

^aSample identified by the year of analysis
^bPresence of an additional subclone with a rearrangement of the del (20)(q), with deleted and duplicated portions of chromosome 20 [16]
^cTwo interstitial deletions with a conserved segment of 2103 Kb in between
^dClones with several structural anomalies, not better defined, involving chromosomes 1, 2, 3, 5, 8, 10, 11 and 12
^eResults of FISH on nuclei
^fCalculated from a-CGH results
^gResult of chromosome analysis

ISSN: 1755-8166