Letters to the editor
Microdeletion 22q11.2: clinical data and deletion size
| The first 150 words of the full text of this article appear below. |
EDITOR
Ninety probands with microdeletion 22 were
ascertained at The Hospital for Sick Children, Toronto, between 1 January 1994 and 1 June 1997. All patients had been karyotyped by G
banding and were found to have a 46,XX or 46,XY karyotype except for
one patient who had a de novo unbalanced translocation: 45,XY,der(6) t(6;22)(p25;q11.2)/45,XY,der(6)t(6;22)(p25;q11.2),+f.
The fragment was very small and was not defined. All were shown by FISH
analysis to be deleted for D22S75 using probe N25 (Oncor, Gaithersburg, MD). FISH analysis for D22S75 was also performed on 126 parents of 73 probands. The study was approved by the Research Ethics Board of the
hospital and written informed consent was obtained.
Clinical data were reviewed retrospectively in 90 cases. Forty five
(50%) were female and 45 (50%) male. The median age at diagnosis was
5.5 years, with 23 cases (26%) under the age of 1 year. The height in
relation to age was lower than average, with 69/85 cases (81%) being
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