PMID- 16160854
OWN - NLM
STAT- MEDLINE
DCOM- 20060330
LR  - 20181113
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 118
IP  - 2
DP  - 2005 Nov
TI  - Molecular analysis of a constitutional complex genome rearrangement with 11 
      breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb 
      submicroscopic deletion in a patient with mild mental retardation.
PG  - 267-75
AB  - Complex chromosome rearrangements (CCRs) are extremely rare but often associated 
      with mental retardation, congenital anomalies, or recurrent spontaneous 
      abortions. We report a de novo apparently balanced CCR involving chromosomes 3 
      and 12 and a two-way translocation between chromosomes 11 and 21 in a woman with 
      mild intellectual disability, obesity, coarse facies, and apparent synophrys 
      without other distinctive dysmorphia or congenital anomalies. Molecular analysis 
      of breakpoints using fluorescence in situ hybridization (FISH) with 
      region-specific BAC clones revealed a more complex character for the CCR. The 
      rearrangement is a result of nine breaks and involves reciprocal translocation of 
      terminal chromosome fragments 3p24.1-->pter and 12q23.1-->qter, insertion of four 
      fragments of the long arm of chromosome 12: q14.1-->q21?, q21?-->q22, 
      q22-->q23.1, and q23.1-->q23.1 and a region 3p22.3-->p24.1 into chromosome 
      3q26.31. In addition, we detected a approximately 0.5-Mb submicroscopic deletion 
      at 3q26.31. The deletion involves the chromosome region that has been previously 
      associated with Cornelia de Lange syndrome (CdLS) in which a novel gene NAALADL2 
      has been mapped recently. Other potential genes responsible for intellectual 
      deficiency disrupted as a result of patient's chromosomal rearrangement map at 
      12q14.1 (TAFA2), 12q23.1 (METAP2), and 11p14.1 (BDNF).
FAU - Borg, Katarzyna
AU  - Borg K
AD  - Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 
      01-211, Warsaw, Poland.
FAU - Stankiewicz, Pawel
AU  - Stankiewicz P
FAU - Bocian, Ewa
AU  - Bocian E
FAU - Kruczek, Anna
AU  - Kruczek A
FAU - Obersztyn, Ewa
AU  - Obersztyn E
FAU - Lupski, James R
AU  - Lupski JR
FAU - Mazurczak, Tadeusz
AU  - Mazurczak T
LA  - eng
GR  - HD24064/HD/NICHD NIH HHS/United States
GR  - P01 HD39420/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20051115
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
SB  - IM
EIN - Hum Genet. 2006 Jan;118(5):668
MH  - Adult
MH  - Chromosome Breakage/*genetics
MH  - Chromosome Disorders/*genetics/pathology
MH  - Chromosome Mapping/methods
MH  - Chromosomes, Human/*genetics
MH  - Congenital Abnormalities/genetics/pathology
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Intellectual Disability/*genetics/pathology
MH  - Translocation, Genetic/*genetics
EDAT- 2005/09/15 09:00
MHDA- 2006/03/31 09:00
CRDT- 2005/09/15 09:00
PHST- 2005/04/01 00:00 [received]
PHST- 2005/06/03 00:00 [accepted]
PHST- 2005/09/15 09:00 [pubmed]
PHST- 2006/03/31 09:00 [medline]
PHST- 2005/09/15 09:00 [entrez]
AID - 10.1007/s00439-005-0021-0 [doi]
PST - ppublish
SO  - Hum Genet. 2005 Nov;118(2):267-75. doi: 10.1007/s00439-005-0021-0. Epub 2005 Nov 
      15.