PMID- 15578618
OWN - NLM
STAT- MEDLINE
DCOM- 20050418
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 132A
IP  - 2
DP  - 2005 Jan 15
TI  - Down syndrome with pure partial trisomy 21q22 due to a paternal insertion (4;21) 
      uncovered by uncultured amniotic fluid interphase FISH.
PG  - 206-8
AB  - OBJECTIVE: To emphasize the usefulness and reliability of fluorescence in situ 
      hybridization (FISH) on uncultured amniotic fluid cells in the prenatal diagnosis 
      of common chromosomal aneuploidies. METHODS: FISH analyses utilizing centromeric, 
      locus-specific or whole chromosome paint DNA probes specific for chromosomes X, 
      Y, 13, 18, 21, and 4 were performed on uncultured amniotic fluid cells or the 
      peripheral blood specimen from the father. Routine chromosome analysis was 
      carried out as well. RESULTS: A prenatal case with partial trisomy 21 due to a 
      paternal cryptic insertion (4;21) was ascertained by a rapid overnight FISH on 
      uncultured amniotic fluid cells. The fetus was delivered at term and had 
      classical features of Down syndrome. CONCLUSION: Our results stress the 
      importance of FISH on uncultured amniotic fluid cells to supplement routine 
      cytogenetics, especially in cases with abnormal ultrasound findings.
FAU - Lee, J
AU  - Lee J
AD  - Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma 
      City, OK 73104, USA.
FAU - Stanley, J R
AU  - Stanley JR
FAU - Vaz, S A
AU  - Vaz SA
FAU - Mulvihill, J J
AU  - Mulvihill JJ
FAU - Wilson, P
AU  - Wilson P
FAU - Hopcus-Niccum, D
AU  - Hopcus-Niccum D
FAU - Li, Shibo
AU  - Li S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - Amniotic Fluid
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 2/*genetics
MH  - Chromosomes, Human, Pair 21/*genetics
MH  - Down Syndrome/*genetics/pathology
MH  - Fathers
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Interphase/genetics
MH  - Karyotyping
MH  - Male
MH  - Pregnancy
MH  - *Trisomy
EDAT- 2004/12/04 09:00
MHDA- 2005/04/19 09:00
CRDT- 2004/12/04 09:00
PHST- 2004/12/04 09:00 [pubmed]
PHST- 2005/04/19 09:00 [medline]
PHST- 2004/12/04 09:00 [entrez]
AID - 10.1002/ajmg.a.30449 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 Jan 15;132A(2):206-8. doi: 10.1002/ajmg.a.30449.