Gokturk et al reported the mean platelet volume to platelet count ratio as an inexpensive means of screening for the 22q11.2 and 10p13 deletion syndromes. The authors are from Baskent University, Necmettin Erbakan University, and Selcuk University in Konya, Turkey.

22q11.2 deletion syndrome is associated with DiGeorge syndrome, velo-cardiofacial syndrome and Opitz G/BBB syndrome.


A patient with 10p13 deletion may show features that overlap with DiGeorge syndrome.


Clinical features:

(1) facial dysmorphism

(2) neurodevelopmental delay (mental-motor retardation)


Laboratory features:

(1) mean platelet volume >= 8.6 fL (presence of macrothrombocytes)

(2) platelet count <= 265,000 per µL

(3) MPV to platelet count ratio >= 3.3


MPV to platelet count ratio =

= (mean platelet volume) / ((platelet count per µL) / (10^5))


If multiple findings are present, then the patient should be tested for 22q11.2 deletion by FISH analysis.


If there are no macrothrombocytes (MPV normal), then test for the 10p13 deletion.

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