PMID- 16983561
OWN - NLM
STAT- MEDLINE
DCOM- 20071108
LR  - 20091119
IS  - 0932-0067 (Print)
IS  - 0932-0067 (Linking)
VI  - 275
IP  - 4
DP  - 2007 Apr
TI  - Prenatal exclusion of subtelomeric deletion 1p by fluorescent in situ 
      hybridization.
PG  - 237-40
AB  - BACKGROUND: Subtelomeric deletion 1p is difficult to detect from banded 
      karyotypes. Recent developments in the field of molecular cytogenetics have made 
      it possible for submicroscopic rearrangements within chromosomes to be detected 
      using fluorescence in situ hybridization (FISH) techniques. MATERIALS AND 
      METHODS: We describe prenatal FISH testing of subtelomeric 1p deletion in a fetus 
      of a mother whose previous child had subtelomeric 1p deletion. RESULTS: 
      Fluorescent in situ hybridization from fetal cells demonstrated normal 1p, thus 
      predicting a very high likelihood of an unaffected fetus. The study was confirmed 
      by the birth of a normal neonate. CONCLUSIONS: We report the use of molecular 
      genetic testing to exclude subtelomeric 1p deletion prenatally. Prenatal 
      diagnostic testing for a known deletion is a reasonable option for couples at 
      risk for having a child with subtelomeric 1p deletion. Molecular testing is more 
      accurate and reliable than ultrasonography and provides families with 
      reassurance.
FAU - Phupong, Vorapong
AU  - Phupong V
AD  - Department of Obstetrics and Gynecology, Faculty of Medicine, Chulalongkorn 
      University, Rama IV Road, Pathumwan, Bangkok 10330, Thailand. 
      vorapong.p@chula.ac.th
FAU - Praphanphoj, Verayuth
AU  - Praphanphoj V
FAU - Shotelersuk, Vorasuk
AU  - Shotelersuk V
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20060916
PL  - Germany
TA  - Arch Gynecol Obstet
JT  - Archives of gynecology and obstetrics
JID - 8710213
SB  - IM
MH  - Adult
MH  - *Chromosome Deletion
MH  - Female
MH  - Genetic Testing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - Telomere/*genetics
EDAT- 2006/09/20 09:00
MHDA- 2007/11/09 09:00
CRDT- 2006/09/20 09:00
PHST- 2006/06/22 00:00 [received]
PHST- 2006/08/17 00:00 [accepted]
PHST- 2006/09/20 09:00 [pubmed]
PHST- 2007/11/09 09:00 [medline]
PHST- 2006/09/20 09:00 [entrez]
AID - 10.1007/s00404-006-0246-8 [doi]
PST - ppublish
SO  - Arch Gynecol Obstet. 2007 Apr;275(4):237-40. doi: 10.1007/s00404-006-0246-8. Epub 
      2006 Sep 16.