PMID- 11043432
OWN - NLM
STAT- MEDLINE
DCOM- 20010208
LR  - 20060706
IS  - 1015-8146 (Print)
IS  - 1015-8146 (Linking)
VI  - 11
IP  - 3
DP  - 2000
TI  - Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 
      polymorphism, but trisomy 17p.
PG  - 241-7
AB  - Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 
      polymorphism, but trisomy 17p: We report on a girl with multiple congenital 
      abnormalities and a prenatally diagnosed 46,XX,14p+ de novo karyotype. 
      Fluorescence in situ hybridization (FISH) demonstrated that the extra material on 
      the short arm of chromosome 14 was not just a polymorphism, but that it 
      originated from chromosome 17. The phenotypic findings of this patient with pure 
      trisomy 17p are compared with those of ten previously published cases.
FAU - De Pater, J M
AU  - De Pater JM
AD  - University Medical Center, Department of Medical Genetics, Utrecht, The 
      Netherlands.
FAU - Van Tintelen, J P
AU  - Van Tintelen JP
FAU - Stigter, R
AU  - Stigter R
FAU - Brouwers, H A
AU  - Brouwers HA
FAU - Scheres, J M
AU  - Scheres JM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Switzerland
TA  - Genet Couns
JT  - Genetic counseling (Geneva, Switzerland)
JID - 9015261
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Chromosome Aberrations/*diagnosis/*genetics
MH  - Chromosome Disorders
MH  - Chromosomes, Human, Pair 14/*genetics
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Fatal Outcome
MH  - Female
MH  - Fetal Diseases/*diagnosis/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Polymorphism, Genetic/*genetics
MH  - *Prenatal Diagnosis
MH  - Trisomy/*genetics
EDAT- 2000/10/24 11:00
MHDA- 2001/03/03 10:01
CRDT- 2000/10/24 11:00
PHST- 2000/10/24 11:00 [pubmed]
PHST- 2001/03/03 10:01 [medline]
PHST- 2000/10/24 11:00 [entrez]
PST - ppublish
SO  - Genet Couns. 2000;11(3):241-7.