PMID- 12116256
OWN - NLM
STAT- MEDLINE
DCOM- 20020920
LR  - 20061115
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 110
IP  - 2
DP  - 2002 Jun 15
TI  - Giant platelets in a case of deletion 11q24-qter confirmed by fluorescence in 
      situ hybridization.
PG  - 170-5
AB  - Here we report the association of giant platelets and an increase in platelet 
      volume in a 19-month-old black female with de novo del 11q24-qter. The deletion, 
      which was visible on karyotype, was further confirmed and more precisely 
      localized by fluorescence in situ hybridization studies (FISH) that showed the 
      deletion to lie distal to the MLL gene region (11q23). Clinically, the case 
      presented less severe symptoms than Jacobsen syndrome-the well known partial 
      deletion of the distal end of chromosome 11. Platelet glycoproteins CD 41, CD 
      42a, C 42b, CD 61, and PAC-1 were also assayed and found to be normally 
      expressed. To our knowledge, giant platelets are described for the first time in 
      the relevant deleted region.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Laleye, Anatole
AU  - Laleye A
AD  - Faculte des Sciences de la Sante, Cotunou, Benin.
FAU - Delneste, Daniele
AU  - Delneste D
FAU - Pradier, Olivier
AU  - Pradier O
FAU - Hans, Christine
AU  - Hans C
FAU - Darboux, Raphael
AU  - Darboux R
FAU - Ogur, Gonul
AU  - Ogur G
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Blood Platelet Disorders/*genetics/pathology
MH  - Blood Platelets/*pathology
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 11/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Infant
MH  - Karyotyping
MH  - Phenotype
EDAT- 2002/07/13 10:00
MHDA- 2002/09/21 10:01
CRDT- 2002/07/13 10:00
PHST- 2002/07/13 10:00 [pubmed]
PHST- 2002/09/21 10:01 [medline]
PHST- 2002/07/13 10:00 [entrez]
AID - 10.1002/ajmg.10418 [doi]
PST - ppublish
SO  - Am J Med Genet. 2002 Jun 15;110(2):170-5. doi: 10.1002/ajmg.10418.