PMID- 12808681
OWN - NLM
STAT- MEDLINE
DCOM- 20031209
LR  - 20161124
IS  - 0960-7692 (Print)
IS  - 0960-7692 (Linking)
VI  - 21
IP  - 6
DP  - 2003 Jun
TI  - Multiple fetal anomalies associated with subtle subtelomeric chromosomal 
      rearrangements.
PG  - 609-15
AB  - We report two cases of multiple fetal anomalies detected by prenatal ultrasound 
      and associated with subtle subtelomeric chromosomal rearrangements. The first 
      case presented at 25 weeks of gestation with an enlarged cisterna magna and 
      ventriculomegaly. Karyotyping of amniocytes showed a subtle terminal abnormality 
      of chromosome 6q. Thereafter, screening of all unique chromosomal subtelomeric 
      regions using a panel of telomere-specific, fluorescence in situ hybridization 
      (FISH) probes revealed an unbalanced reciprocal translocation between 6q and 17p 
      [46,XX.ish der(6)t(6;17)(q25.3;p13)(TelVysion6q-;TelVysion17p+)]. The second case 
      presented at 25 weeks of gestation with tetralogy of Fallot and at 34 weeks of 
      gestation had additional ultrasound findings of an arachnoid cyst and 
      intrauterine growth restriction. Postnatal karyotyping of peripheral blood was 
      performed and appeared normal. However, a cryptic deletion of the subtelomeric 
      region of the long arm of chromosome 14 was identified when the infant's blood 
      sample was used as a control for an oncology FISH probe. Thereafter, screening of 
      all unique chromosomal subtelomeric regions using a panel of telomere-specific 
      FISH probes revealed an unbalanced reciprocal translocation of chromosomes 14q 
      and 20p [46,XY.ish der(14)t(14;20)(q32.3;p13)(IGH-, D14S308-,TelVysion20p+)mat]. 
      These two cases add to a growing number of reports of cryptic subtelomeric 
      chromosomal rearrangements associated with congenital anomalies. This is the 
      first report of multiple, simultaneous FISH screening of the subtelomeric regions 
      in amniotic fluid and has demonstrated the technical feasibility of this 
      technique in the prenatal period.
CI  - Copyright 2003 ISUOG. Published by John Wiley & Sons, Ltd.
FAU - Souter, V L
AU  - Souter VL
AD  - Division of Medical Genetics, Department of Medicine, University of Washington, 
      Seattle, WA 98105-0371, USA. vsouter@u.washington.edu
FAU - Glass, I A
AU  - Glass IA
FAU - Chapman, D B
AU  - Chapman DB
FAU - Raff, M L
AU  - Raff ML
FAU - Parisi, M A
AU  - Parisi MA
FAU - Opheim, K E
AU  - Opheim KE
FAU - Disteche, C M
AU  - Disteche CM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Ultrasound Obstet Gynecol
JT  - Ultrasound in obstetrics & gynecology : the official journal of the International 
      Society of Ultrasound in Obstetrics and Gynecology
JID - 9108340
SB  - IM
MH  - Abnormalities, Multiple/diagnostic imaging/*genetics
MH  - Adolescent
MH  - Adult
MH  - Amniocentesis
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Chromosomes, Human, Pair 6/*genetics
MH  - Female
MH  - Humans
MH  - Karyotyping
MH  - Pregnancy
MH  - Pregnancy Trimester, Third
MH  - Telomere
MH  - *Translocation, Genetic
MH  - Ultrasonography, Prenatal
EDAT- 2003/06/17 05:00
MHDA- 2003/12/10 05:00
CRDT- 2003/06/17 05:00
PHST- 2003/06/17 05:00 [pubmed]
PHST- 2003/12/10 05:00 [medline]
PHST- 2003/06/17 05:00 [entrez]
AID - 10.1002/uog.112 [doi]
PST - ppublish
SO  - Ultrasound Obstet Gynecol. 2003 Jun;21(6):609-15. doi: 10.1002/uog.112.