PMID- 11471177
OWN - NLM
STAT- MEDLINE
DCOM- 20010823
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 102
IP  - 1
DP  - 2001 Jul 22
TI  - Loss of subtelomeric sequence associated with a terminal inversion duplication of 
      the short arm of chromosome 4.
PG  - 76-80
AB  - We report on a 4(1/2)-year-old girl, who presented with multiple minor anomalies 
      consistent with trisomy for 4p. GTG-banding identified a de novo terminal 
      inversion duplication of distal 4p, dup(4)(p16.3p15.3). Fluorescence in situ 
      hybridization (FISH) with a wcp4 probe confirmed the chromosome 4 origin of the 
      additional material. FISH with a 4p subtelomere probe, D4F26, showed no signal on 
      the dup(4) chromosome identifying a deletion of this region. Molecular analysis 
      of 4p STS loci confirmed the subtelomeric deletion and showed loss of the 
      paternal allele in this region. The paternal origin of the deleted region and 
      homozygosity for one of the two paternal alleles within the region of the 
      duplication suggests that a sister chromatid rearrangement on the paternal 
      chromosome 4 was involved in the formation of the dup(4) chromosome. To date, the 
      best characterized mechanisms of formation of chromosome duplications are 
      terminal inversion duplications of 8p, which were shown to be derived from 
      rearrangements at maternal meiosis-I. Our data show that mechanisms other than a 
      maternal meiosis-I rearrangement can lead to the formation of terminal inversion 
      duplications. FISH analysis with the appropriate subtelomeric probes is warranted 
      in terminal inversion duplications to check for associated deletions.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Cotter, P D
AU  - Cotter PD
AD  - Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, 
      USA. pcotter@itsa.ucsf.edu
FAU - Kaffe, S
AU  - Kaffe S
FAU - Li, L
AU  - Li L
FAU - Gershin, I F
AU  - Gershin IF
FAU - Hirschhorn, K
AU  - Hirschhorn K
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosome Deletion
MH  - Chromosome Inversion
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 4/*genetics
MH  - DNA/genetics
MH  - Family Health
MH  - Female
MH  - Gene Duplication
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Microsatellite Repeats
MH  - Pedigree
MH  - Telomere/*genetics
EDAT- 2001/07/27 10:00
MHDA- 2001/08/24 10:01
CRDT- 2001/07/27 10:00
PHST- 2001/07/27 10:00 [pubmed]
PHST- 2001/08/24 10:01 [medline]
PHST- 2001/07/27 10:00 [entrez]
AID - 10.1002/1096-8628(20010722)102:1<76::AID-AJMG1389>3.0.CO;2-4 [pii]
AID - 10.1002/1096-8628(20010722)102:1<76::aid-ajmg1389>3.0.co;2-4 [doi]
PST - ppublish
SO  - Am J Med Genet. 2001 Jul 22;102(1):76-80. doi: 
      10.1002/1096-8628(20010722)102:1<76::aid-ajmg1389>3.0.co;2-4.