PMID- 18792974
OWN - NLM
STAT- MEDLINE
DCOM- 20081113
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 146A
IP  - 19
DP  - 2008 Oct 1
TI  - Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen 
      syndrome without thrombocytopenia caused by an approximately 5 Mb deletion 
      del(11)(q24.3).
PG  - 2449-54
LID - 10.1002/ajmg.a.32490 [doi]
AB  - Clinical manifestations of Jacobsen syndrome (JBS) depend on the size of the 
      11qter deletion, which usually varies between approximately 7 and 20 Mb. Typical 
      JBS features include developmental delay/mental retardation, short stature, 
      congenital heart defects, thrombocytopenia, and characteristic dysmorphic facial 
      features. We report on a family in which a 4-year-old girl as well as her mother 
      and maternal uncle present with subtle features of JBS. Notably, neither 
      thrombocytopenia nor congenital anomalies were detected in this family. 
      Cytogenetic analyses revealed normal karyotypes. Using fluorescence in situ 
      hybridization (FISH) and whole-genome oligonucleotide array CGH analyses, we 
      identified an approximately 5 Mb deletion of the terminal part of chromosome 11q 
      in all the three affected family members. The deletion breakpoint was mapped 
      between 129,511,419 and 129,519,794 bp. This is the smallest deletion reported in 
      a JBS patient. Interestingly, the FLI1 (friend leukemia virus integration 1) 
      hematopoiesis factor gene located approximately 6.5 Mb from 11qter and usually 
      deleted in patients with JBS, is intact. Our data support previous hypotheses 
      that FLI1 haploinsufficiency is responsible for thrombocytopenia in patients with 
      JBS.
CI  - Copyright 2008 Wiley-Liss, Inc.
FAU - Bernaciak, Joanna
AU  - Bernaciak J
AD  - Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
FAU - Szczaluba, Krzysztof
AU  - Szczaluba K
FAU - Derwinska, Katarzyna
AU  - Derwinska K
FAU - Wisniowiecka-Kowalnik, Barbara
AU  - Wisniowiecka-Kowalnik B
FAU - Bocian, Ewa
AU  - Bocian E
FAU - Sasiadek, Maria Malgorzata
AU  - Sasiadek MM
FAU - Makowska, Izabela
AU  - Makowska I
FAU - Stankiewicz, Pawel
AU  - Stankiewicz P
FAU - Smigiel, Robert
AU  - Smigiel R
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Adult
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - *Chromosomes, Human, Pair 11
MH  - Family
MH  - Female
MH  - Humans
MH  - *Jacobsen Distal 11q Deletion Syndrome
MH  - Male
MH  - Middle Aged
MH  - Molecular Diagnostic Techniques/*methods
MH  - Thrombocytopenia/*genetics
EDAT- 2008/09/17 09:00
MHDA- 2008/11/14 09:00
CRDT- 2008/09/17 09:00
PHST- 2008/09/17 09:00 [pubmed]
PHST- 2008/11/14 09:00 [medline]
PHST- 2008/09/17 09:00 [entrez]
AID - 10.1002/ajmg.a.32490 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2008 Oct 1;146A(19):2449-54. doi: 10.1002/ajmg.a.32490.