PMID- 7847800
OWN - NLM
STAT- MEDLINE
DCOM- 19950309
LR  - 20061115
IS  - 0003-3995 (Print)
IS  - 0003-3995 (Linking)
VI  - 37
IP  - 3
DP  - 1994
TI  - Tetrasomy 18p in two cases confirmation by in situ hybridization.
PG  - 156-9
AB  - Two cases with an extra small metacentric chromosome are described. Classic 
      cytogenetic analysis was insufficient for identification of the marker origin. 
      High resolution banding and fluorescence in situ hybridization (FISH) using a 
      chromosome specific painting probe indicated that both marker chromosomes 
      originated from chromosome 18. The correlation between phenotype, cytogenetics 
      and FISH results allowed us to conclude that the patients are tetrasomic for 18p. 
      A comparison of the clinical features of our two patients with other twelve 
      previously reported patients where tetrasomy 18p was confirmed, is also 
      presented.
FAU - Esmer, M C
AU  - Esmer MC
AD  - Departamento de Investigacion en Genetica Humana, Instituto Nacional de 
      Pediatria, Mexico D.F., Mexico.
FAU - Frias, S
AU  - Frias S
FAU - Gomez, L
AU  - Gomez L
FAU - Carnevale, A
AU  - Carnevale A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Netherlands
TA  - Ann Genet
JT  - Annales de genetique
JID - 0370562
SB  - IM
MH  - *Aneuploidy
MH  - *Chromosomes, Human, Pair 18
MH  - Humans
MH  - In Situ Hybridization
MH  - Infant
MH  - Karyotyping
EDAT- 1994/01/01 00:00
MHDA- 1994/01/01 00:01
CRDT- 1994/01/01 00:00
PHST- 1994/01/01 00:00 [pubmed]
PHST- 1994/01/01 00:01 [medline]
PHST- 1994/01/01 00:00 [entrez]
PST - ppublish
SO  - Ann Genet. 1994;37(3):156-9.