A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH).
In seven cases additional minute chromosomes studied by FISH were identified as no. 3, 11, 15, 18, 21 and X. Findings were unexpected except for partial trisomy 21 in an adolescent with minor features of Down's syndrome. Moreover, an i(18p) in a mentally retarded dysmorphic child and an idic(15) in a child with Fallot tetralogy was confirmed. In a child with r(21), a supernumerary marker was shown to be derived from no. 21, while in the mother an additional marker idic(22) was noted.
Rauch
A
A
Institut für Humangenetik, Friedrich-Alexander Universität Erlangen-Nürnberg, FRG.
Pfeiffer
R A
RA
Trautmann
U
U
Liehr
T
T
Rott
H D
HD
Ulmer
R
R
D000649:Amniocentesis; D002869:Chromosome Aberrations; D002880:Chromosomes, Human, Pair 11; D002884:Chromosomes, Human, Pair 15; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D002893:Chromosomes, Human, Pair 3; D004314:Down Syndrome / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017403:In Situ Hybridization; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008856:Microscopy, Fluorescence; D009030:Mosaicism; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities; D013771:Tetralogy of Fallot / Q000235:genetics; D014960:X Chromosome
D005819:Genetic Markers