PMID- 8655132
OWN - NLM
STAT- MEDLINE
DCOM- 19960726
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 97
IP  - 5
DP  - 1996 May
TI  - Tetrasomy 18p de novo: identification by FISH with conventional and 
      microdissection probes and analysis of parental origin and formation by short 
      sequence repeat typing.
PG  - 568-72
AB  - We report a de novo supernumerary isochromosome 18p in a child with tetrasomy 
      18p, analyzed by a straightforward combination of cytogenetic and molecular 
      cytogenetic methods. The diagnostic procedure consisted of standard banding 
      techniques and fluorescence in situ hybridization (FISH) with centromere and 
      library DNA probes for chromosome 18, and 18p-specific FISH probes prepared by 
      chromosome dissesction and in vitro amplification. The maternal origin as well as 
      the most probable cell stages of formation of the supernumerary isochromosome 
      were determined by typing of short sequence repeats (SSRs). The pattern of 
      allelic distribution suggests a nondisjunction during meiosis followed by a 
      centromeric misdivision in an early postzygotic mitosis as the most probable mode 
      of isochromosome 18p formation. The combination of the applied methods represents 
      a powerful tool to investigate the nature and the origin of de novo marker 
      chromosomes.
FAU - Eggermann, T
AU  - Eggermann T
AD  - Institut fur Humangenetik, Rheinische Friedrich-Wilhelms-Universitat Bonn, 
      Germany.
FAU - Engels, H
AU  - Engels H
FAU - Moskalonek, B
AU  - Moskalonek B
FAU - Nothen, M M
AU  - Nothen MM
FAU - Muller-Navia, J
AU  - Muller-Navia J
FAU - Schleiermacher, E
AU  - Schleiermacher E
FAU - Schwanitz, G
AU  - Schwanitz G
FAU - Stengel-Rutkowski, S
AU  - Stengel-Rutkowski S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (DNA Probes)
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Alleles
MH  - *Aneuploidy
MH  - Centromere/ultrastructure
MH  - Child, Preschool
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 18
MH  - DNA Probes
MH  - Fathers
MH  - Female
MH  - Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
MH  - Mothers
MH  - *Repetitive Sequences, Nucleic Acid
EDAT- 1996/05/01 00:00
MHDA- 1996/05/01 00:01
CRDT- 1996/05/01 00:00
PHST- 1996/05/01 00:00 [pubmed]
PHST- 1996/05/01 00:01 [medline]
PHST- 1996/05/01 00:00 [entrez]
AID - 10.1007/BF02281862 [doi]
PST - ppublish
SO  - Hum Genet. 1996 May;97(5):568-72. doi: 10.1007/BF02281862.