PMID- 15039970
OWN - NLM
STAT- MEDLINE
DCOM- 20040423
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 126A
IP  - 1
DP  - 2004 Apr 1
TI  - A familial balanced inverted insertion ins(15)(q15q13q11.2) producing 
      Prader-Willi syndrome, Angelman syndrome and duplication of 15q11.2-q13 in a 
      single family: Importance of differentiation from a paracentric inversion.
PG  - 27-32
AB  - We reascertained a family in which first cousins were affected by Angelman 
      syndrome and Prader-Willi syndrome. A paracentric inversion of 15q11-q15 had 
      previously been reported in this family but we show, using fluorescence in situ 
      hybridization (FISH), that the rearrangement segregating in this family is not a 
      paracentric inversion but an inverted intrachromosomal insertion, inv 
      ins(15)(q15q13q11.2). We also describe a further recombinant resulting in a 
      maternal duplication of the Prader-Willi/Angelman critical region. This family 
      illustrates the importance of distinguishing paracentric inversions from 
      intrachromosomal insertions.
CI  - Copyright 2004 Wiley-Liss, Inc.
FAU - Collinson, Morag N
AU  - Collinson MN
AD  - Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, 
      Wilts, United Kingdom. wessex.genetics@salisbury.nhs.uk
FAU - Roberts, Sian E
AU  - Roberts SE
FAU - Crolla, John A
AU  - Crolla JA
FAU - Dennis, Nicholas R
AU  - Dennis NR
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (DNA Probes)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Angelman Syndrome/*genetics
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - *Chromosome Inversion
MH  - Chromosome Segregation
MH  - *Chromosomes, Human, Pair 15
MH  - DNA/chemistry/genetics
MH  - DNA Probes
MH  - Female
MH  - *Gene Duplication
MH  - Gene Rearrangement
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Pedigree
MH  - Prader-Willi Syndrome/*genetics
EDAT- 2004/03/25 05:00
MHDA- 2004/04/24 05:00
CRDT- 2004/03/25 05:00
PHST- 2004/03/25 05:00 [pubmed]
PHST- 2004/04/24 05:00 [medline]
PHST- 2004/03/25 05:00 [entrez]
AID - 10.1002/ajmg.a.26565 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2004 Apr 1;126A(1):27-32. doi: 10.1002/ajmg.a.26565.