PMID- 15523640
OWN - NLM
STAT- MEDLINE
DCOM- 20050505
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 131
IP  - 2
DP  - 2004 Dec 1
TI  - A dysmorphic boy with 4qter deletion and 4q32.3-34.3 duplication: clinical, 
      cytogenetic, and molecular findings.
PG  - 186-9
AB  - An infant boy presented with trigonocephaly, mild craniofacial features, a small 
      VSD, open ductus Botalli (ODB), bilateral hip dysplasia, psychomotor retardation, 
      and hypotonia. The karyotype was 46,XY,del(4)(q34). Unexpectedly, fluorescence in 
      situ hybridization (FISH) studies revealed not only a deletion but also a 
      duplication. The deletion extends from 4qter to 4q34.3 and the duplication from 
      4q32.3 to q34.3. This is the first description of a deletion inverted duplication 
      4q. Possible mechanisms we can envision by which this deletion/duplication arose 
      could be a U-type exchange causing end-to-end fusion or a two step event with a 
      paracentric inversion and subsequent cross-over in the inverted segment. This 
      observation suggests that the karyotype of patients with a 4q deletion should be 
      confirmed by molecular cytogenetics.
FAU - Van Buggenhout, Griet
AU  - Van Buggenhout G
AD  - Center for Human Genetics, University Hospital Leuven, Leuven, Belgium. 
      griet.vanbuggenhout@uz.kuleuven.ac.be
FAU - Maas, Nicole M C
AU  - Maas NM
FAU - Fryns, Jean-Pierre
AU  - Fryns JP
FAU - Vermeesch, Joris R
AU  - Vermeesch JR
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
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 4
MH  - Humans
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
EDAT- 2004/11/04 09:00
MHDA- 2005/05/06 09:00
CRDT- 2004/11/04 09:00
PHST- 2004/11/04 09:00 [pubmed]
PHST- 2005/05/06 09:00 [medline]
PHST- 2004/11/04 09:00 [entrez]
AID - 10.1002/ajmg.a.20679 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2004 Dec 1;131(2):186-9. doi: 10.1002/ajmg.a.20679.