PMID- 11332980
OWN - NLM
STAT- MEDLINE
DCOM- 20010726
LR  - 20061115
IS  - 1015-8146 (Print)
IS  - 1015-8146 (Linking)
VI  - 12
IP  - 1
DP  - 2001
TI  - De novo unbalanced t(11q;21q) leading to a partial monosomy 21pter-q22.2 and 
      11q24-qter in a patient initially diagnosed as monosomy 21.
PG  - 69-75
AB  - We describe a patient in whom full monosomy 21 was initially assumed from routine 
      GTG banded karyotyping. Re-examination with chromosome painting demonstrated an 
      unbalanced translocation between the long arms of chromosomes 11 and 21. 
      Fluorescence in situ hybridization (FISH) and microsatellite marker analysis 
      revealed partial monosomy of chromosome 21 (pter-q22.2) and 11 (q24-qter). The 
      patient was prematurely born in the 31st week of gestation and expired 3 days 
      after delivery. She showed multiple minor anomalies, a complex cardio-vascular 
      malformation, intestinal malrotation and cerebellar hypoplasia.
FAU - Riegel, M
AU  - Riegel M
AD  - Institute for Medical Genetics, University of Zurich, Switzerland. 
      riegel@medgen.unizh.ch
FAU - Baumer, A
AU  - Baumer A
FAU - Piram, A
AU  - Piram A
FAU - Ortolan, D
AU  - Ortolan D
FAU - Peres, L C
AU  - Peres LC
FAU - Pina-Neto, J M
AU  - Pina-Neto JM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Switzerland
TA  - Genet Couns
JT  - Genetic counseling (Geneva, Switzerland)
JID - 9015261
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Adult
MH  - Chromosome Painting
MH  - *Chromosomes, Human, Pair 11
MH  - *Chromosomes, Human, Pair 21
MH  - Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - *Infant, Premature
MH  - Male
MH  - Microsatellite Repeats
MH  - *Monosomy
MH  - *Translocation, Genetic
EDAT- 2001/05/03 10:00
MHDA- 2001/07/28 10:01
CRDT- 2001/05/03 10:00
PHST- 2001/05/03 10:00 [pubmed]
PHST- 2001/07/28 10:01 [medline]
PHST- 2001/05/03 10:00 [entrez]
PST - ppublish
SO  - Genet Couns. 2001;12(1):69-75.