PMID- 11746160
OWN - NLM
STAT- MEDLINE
DCOM- 20020301
LR  - 20190906
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 21
IP  - 12
DP  - 2001 Dec
TI  - Increased fetal nuchal fold leading to prenatal diagnosis of ring chromosome 15.
PG  - 1031-3
AB  - We report on the prenatal diagnosis of ring chromosome 15 in a fetus with 
      increased nuchal fold and intrauterine growth restriction (IUGR). A 27-year-old 
      woman gravida 2, para 1 had normal maternal serum screen tests in the early 
      second trimester of the index pregnancy. Fetal nuchal fold thickening up to 8 mm 
      was incidentally found during the routine obstetric ultrasound scan at 20 weeks' 
      gestation. Amniocentesis was undertaken and the fetal karyotype was found to be 
      46,XY,r(15) on cytogenetic study. Fluorescence in situ hybridization (FISH) using 
      a telomeric probe of chromosome 15 demonstrated a terminal deletion on the q arm 
      of the ring-shaped chromosome 15. This is the first report of a prenatally 
      diagnosed case of ring chromosome 15. Moreover, nuchal fold thickness in the 
      second trimester may have a role in its prenatal diagnosis.
CI  - Copyright 2001 John Wiley & Sons, Ltd.
FAU - Liu, Y H
AU  - Liu YH
AD  - Department of Obstetrics and Gynecology, Keelung Chang Gung Memorial Hospital, 
      Keelung, Taiwan, ROC.
FAU - Chang, S D
AU  - Chang SD
FAU - Chen, F P
AU  - Chen FP
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Abortion, Induced
MH  - Adult
MH  - Amniocentesis
MH  - *Chromosomes, Human, Pair 15
MH  - Female
MH  - Fetal Growth Retardation/diagnostic imaging/genetics
MH  - Gene Deletion
MH  - Gestational Age
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Neck/*diagnostic imaging/*embryology
MH  - Pregnancy
MH  - *Ring Chromosomes
MH  - *Ultrasonography, Prenatal
EDAT- 2001/12/18 10:00
MHDA- 2002/03/02 10:01
CRDT- 2001/12/18 10:00
PHST- 2001/12/18 10:00 [pubmed]
PHST- 2002/03/02 10:01 [medline]
PHST- 2001/12/18 10:00 [entrez]
AID - 10.1002/pd.168 [pii]
AID - 10.1002/pd.168 [doi]
PST - ppublish
SO  - Prenat Diagn. 2001 Dec;21(12):1031-3. doi: 10.1002/pd.168.