Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.
A dysmorphic patient was shown to carry a small supernumerary marker chromosome. Multicolor, centromere-multicolor and regular FISH experiments proved the marker to be an analphoid 12pter derived isochromosome. Microdissection of the marker followed by reverse painting and array CGH analysis showed that the isochromosome contains approximately 6 Mb of 12pter-12p13.31 derived sequence. This is only the second report of a marker with a neocentromere 12pter and the molecular fine mapping of the duplicated region further refines the 12p region defining the Pallister-Killian syndrome phenotype. In addition, we show the feasibility of using microdissected chromosomes or chromosomal fragments to molecularly map the chromosomal breakpoints on array CGH. This technology may aid in the identification of chromosomal translocation breakpoints.
Vermeesch
Joris Robert
JR
Center for Human Genetics, University Hospital Gasthuisberg, University of Leuven, Herestraat 49, 3000 Leuven, Belgium. Joris.Vermeesch@med.kuleuven.ac.be
Melotte
Cindy
C
Salden
Ivo
I
Riegel
Mariluce
M
Trifnov
Vladimir
V
Polityko
Anna
A
Rumyantseva
Natalia
N
Naumchik
Irina
I
Starke
Heike
H
Matthijs
Gert
G
Schinzel
Albert
A
Fryns
Jean-Pierre
JP
Liehr
Thomas
T
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000782:Aneuploidy; D002648:Child; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D013577:Syndrome
D005819:Genetic Markers