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Jacobsen distal 11q deletion syndrome with a myelodysplastic change of hemopoietic cells

✍ Scribed by Lin, Jiuann-Huey; Hou, Jia-Woei; Teng, Ru-Jeng; Tien, Hwei-Fang; Lin, Kai-Hsin

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 22 KB
Volume: 75
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980203)75:4<341::aid-ajmg1>3.0.co;2-t

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✦ Synopsis

We describe a male infant with unusual facial appearance, relative pancytopenia, bilateral simian creases, and an accessory nipple. Cytogenetic analysis showed deletion of the long arm of chromosome 11 [46,XY,del(11)(pter-->q23.2:)]. Bone-marrow study showed a myelodysplastic change of hemopoietic cells compatible with peripheral blood findings. Pachygyria of the temporal and frontal lobes was demonstrated by magnetic resonance image (MRI) of the brain. We present our findings in order to contribute to the information on 11q23 deletion.

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