Ann Lab Med.  2015 May;35(3):373-375. 10.3343/alm.2015.35.3.373.

A Case of Pentasomy 21 With Two Isochromosome 21s in Acute Megakaryoblastic Leukemia Associated With Down Syndrome

Affiliations
  • 1Department of Laboratory Medicine, Chungnam National University Hospital, Daejeon, Korea. shkoo@cnu.ac.kr

Abstract

No abstract available.


MeSH Terms

*Aneuploidy
Bone Marrow/pathology
Chromosomes, Human, Pair 21
Down Syndrome/*complications
Female
Humans
Hyperplasia/pathology
In Situ Hybridization, Fluorescence
Infant
Isochromosomes/*genetics
Karyotype
Leukemia, Megakaryoblastic, Acute/complications/*diagnosis
Megakaryocytes/pathology

Figure

  • Fig. 1 (A) Bone marrow needle biopsy specimen, showing grade 3 fibrosis (H&E stain, ×100). (B) Reticulin staining showing grade 3 fibrosis (Reticulin stain, ×200).

  • Fig. 2 Patient with Down syndrome exhibiting primary myelofibrosis with pentasomy 21. (A) Karyogram (Karyotype: 49,XX,+11,+19, +21c,der(21;21)(q10;q10)c, +der(21;21)[19]/46,XX,+21c,der(21;21)(q10;q10)c[9]. Arrows indicate abnormal chromosomes of 11, 19, and 21. (B) FISH analysis with a locus-specific probe for 21q22.13-q22.2, revealing pentasomy 21.


Reference

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