PMID- 11241533
OWN - NLM
STAT- MEDLINE
DCOM- 20010621
LR  - 20190906
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 21
IP  - 2
DP  - 2001 Feb
TI  - Acrocentric chromosome polymorphisms: beware of cryptic translocations.
PG  - 96-8
AB  - Cryptic translocations may escape diagnosis, especially when they implicate 
      chromosomal regions that are known to be polymorphic in the human karyotype. We 
      describe a case of postnatal diagnosis of Beckwith-Wiedemann syndrome (BWS) due 
      to an unbalanced translocation that had not been diagnosed in the fetal 
      karyotype. This first cytogenetic analysis revealed that one chromosome 14 
      presented as a common acrocentric short arm polymorphism. Further analyses after 
      birth, using C-banding, NOR staining and fluorescence in situ hybridization 
      (FISH) with telomeric probes, revealed that it was the result of an unbalanced de 
      novo t(11;14)(p15;p13) translocation leading to partial 11p trisomy and to BWS. 
      Prenatal cytogenetic management of such apparently inoffensive chromosome markers 
      is discussed.
CI  - Copyright 2001 John Wiley & Sons, Ltd.
FAU - Benzacken, B
AU  - Benzacken B
AD  - Service d'Histologie, Embryologie, Cytogenetique et Biologie de la Reproduction, 
      Hopital Jean Verdier, 93 Bondy, France.
FAU - Monier-Gavelle, F
AU  - Monier-Gavelle F
FAU - Siffroi, J P
AU  - Siffroi JP
FAU - Agbo, P
AU  - Agbo P
FAU - Chalvon, A
AU  - Chalvon A
FAU - Wolf, J P
AU  - Wolf JP
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 0 (Coloring Agents)
SB  - IM
CIN - Prenat Diagn. 2003 May;23(5):427-30. PMID: 12749042
MH  - Adult
MH  - Beckwith-Wiedemann Syndrome/*diagnosis/*genetics
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 11
MH  - Chromosomes, Human, Pair 14
MH  - Coloring Agents
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Nucleolus Organizer Region/ultrastructure
MH  - Polymorphism, Genetic
MH  - Pregnancy
MH  - *Translocation, Genetic
MH  - Trisomy
EDAT- 2001/03/10 10:00
MHDA- 2001/06/22 10:01
CRDT- 2001/03/10 10:00
PHST- 2001/03/10 10:00 [pubmed]
PHST- 2001/06/22 10:01 [medline]
PHST- 2001/03/10 10:00 [entrez]
AID - 10.1002/1097-0223(200102)21:2<96::AID-PD986>3.0.CO;2-O [pii]
AID - 10.1002/1097-0223(200102)21:2<96::aid-pd986>3.0.co;2-o [doi]
PST - ppublish
SO  - Prenat Diagn. 2001 Feb;21(2):96-8. doi: 
      10.1002/1097-0223(200102)21:2<96::aid-pd986>3.0.co;2-o.