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Jacobsen distal 11q deletion syndrome with a myelodysplastic change of hemopoietic cells. Am J Med Genet 1998 Feb 03;75(4):341-4

Date

03/03/1998

Pubmed ID

9482638

DOI

10.1002/(sici)1096-8628(19980203)75:4<341::aid-ajmg1>3.0.co;2-t

Abstract

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.

Author List

Lin JH, Hou JW, Teng RJ, Tien HF, Lin KH

Author

Ru-Jeng Teng MD Associate Professor in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Bone Marrow Cells
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 11
Gene Deletion
Humans
Infant
Karyotyping
Magnetic Resonance Imaging
Male
Myelodysplastic Syndromes
jenkins-FCD Prod-478 d1509cf07a111124a2d122fd3df854cc0b993c00