PMID- 16470726
OWN - NLM
STAT- MEDLINE
DCOM- 20060530
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 140
IP  - 5
DP  - 2006 Mar 1
TI  - Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and 
      congenital heart disease.
PG  - 427-33
AB  - Fine mapping of chromosomal deletions and genotype-phenotype comparisons of 
      clinically well-defined patients can be used to confirm or reveal loci and genes 
      associated with human disorders. Eleven patients with cytogenetically visible 
      deletions involving the terminal region of chromosome 5q have been described, but 
      the extent of the deletion was determined only in one case. In this study we 
      describe a 15-year-old boy with Ebstein anomaly, atrial septal defect (ASD), 
      atrioventricular (AV) conduction defect, and microcephaly. He had an apparently 
      balanced paracentric inversion of chromosome 5, with the karyotype 46, 
      XY,inv(5)(q13q35) de novo. Further mapping of the chromosome breakpoints using 
      fluorescence in situ hybridization (FISH) revealed a 2.2 Mb microdeletion at the 
      5q35 breakpoint, which spans 16 genes, including the cardiac homeobox 
      transcription factor gene NKX2-5. The current data suggest that 
      haploinsufficiency of NKX2-5 cause Ebstein anomaly and support previous results 
      showing that NKX2-5 mutations cause ASD and AV conduction defect. Furthermore, we 
      suggest presence of a new microcephaly locus within a 2.2 Mb region at 
      5q35.1-q35.2.
FAU - Baekvad-Hansen, Marie
AU  - Baekvad-Hansen M
AD  - Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Centre for 
      Functional Genome Research, The Panum Institute, University of Copenhagen, 
      Copenhagen, Denmark.
FAU - Tumer, Zeynep
AU  - Tumer Z
FAU - Delicado, Alicia
AU  - Delicado A
FAU - Erdogan, Fikret
AU  - Erdogan F
FAU - Tommerup, Niels
AU  - Tommerup N
FAU - Larsen, Lars A
AU  - Larsen LA
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  - Abnormalities, Multiple/*genetics/pathology
MH  - Adolescent
MH  - Chromosome Banding
MH  - Chromosome Breakage/genetics
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 5/*genetics
MH  - Ebstein Anomaly/pathology
MH  - Gene Deletion
MH  - Genotype
MH  - Heart Defects, Congenital/*pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Microcephaly/genetics/*pathology
MH  - Phenotype
EDAT- 2006/02/14 09:00
MHDA- 2006/05/31 09:00
CRDT- 2006/02/14 09:00
PHST- 2006/02/14 09:00 [pubmed]
PHST- 2006/05/31 09:00 [medline]
PHST- 2006/02/14 09:00 [entrez]
AID - 10.1002/ajmg.a.31087 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2006 Mar 1;140(5):427-33. doi: 10.1002/ajmg.a.31087.