PMID- 8840116
OWN - NLM
STAT- MEDLINE
DCOM- 19970102
LR  - 20220321
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 4
IP  - 3
DP  - 1996
TI  - Tetrasomy 18p de novo: parental origin and different mechanisms of formation.
PG  - 160-7
AB  - We have used eight PCR-based DNA polymorphisms to determine the parental origin 
      and mechanisms of formation in 9 patients with de novo nonmosaic tetrasomy 18p. 
      The 9 patients, 4 girls and 5 boys, had clinical features characteristic of 
      i(18p) syndrome. The supernumerary marker chromosome was identified by 
      fluorescence in situ hybridization (FISH) analysis using centromeric probes and a 
      flow-sorted 18p-specific library. The isochromosome was of maternal origin in all 
      9 cases. The formation of tetrasomy 18p cannot be explained by a single model. In 
      6 cases, meiosis II nondisjunction, followed by subsequent postzygotic 
      misdivsion, and in 1 case postzygotic nondisjunction and postzygotic misdivision 
      were the most likely mechanisms of formation. Alternative mechanisms are 
      suggested in the remaining 2 cases.
FAU - Bugge, M
AU  - Bugge M
AD  - Department of Medical Genetics, John F. Kennedy Institute, Glostrup, Denmark.
FAU - Blennow, E
AU  - Blennow E
FAU - Friedrich, U
AU  - Friedrich U
FAU - Petersen, M B
AU  - Petersen MB
FAU - Pedeutour, F
AU  - Pedeutour F
FAU - Tsezou, A
AU  - Tsezou A
FAU - Orum, A
AU  - Orum A
FAU - Hermann, S
AU  - Hermann S
FAU - Lyngbye, T
AU  - Lyngbye T
FAU - Sarri, C
AU  - Sarri C
FAU - Avramopoulos, D
AU  - Avramopoulos D
FAU - Kitsiou, S
AU  - Kitsiou S
FAU - Lambert, J C
AU  - Lambert JC
FAU - Guzda, M
AU  - Guzda M
FAU - Tommerup, N
AU  - Tommerup N
FAU - Brondum-Nielsen, K
AU  - Brondum-Nielsen K
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
SB  - IM
EIN - Eur J Hum Genet 1996;4(5):291
MH  - Adolescent
MH  - Adult
MH  - *Aneuploidy
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 18
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
EDAT- 1996/01/01 00:00
MHDA- 1996/01/01 00:01
CRDT- 1996/01/01 00:00
PHST- 1996/01/01 00:00 [pubmed]
PHST- 1996/01/01 00:01 [medline]
PHST- 1996/01/01 00:00 [entrez]
AID - 10.1159/000472190 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 1996;4(3):160-7. doi: 10.1159/000472190.