PMID- 15953408
OWN - NLM
STAT- MEDLINE
DCOM- 20050810
LR  - 20161124
IS  - 1769-7212 (Print)
IS  - 1769-7212 (Linking)
VI  - 48
IP  - 1
DP  - 2005 Jan-Mar
TI  - Double aneuploidy involving trisomy 7 with Potter sequence.
PG  - 67-73
AB  - We report a prenatal case of double aneuploidy (consisting of chromosome 7 and X) 
      with the features of Potter sequence. Of the stillborn fetus, skin fibroblast 
      cultures were performed and fluorescence in situ hybridization (FISH) technique 
      was also used for further investigation. On physical examination; the fetus was 
      found to have malformed ears, micrognatia, hypertelorism, abnormal extremities, 
      rocker-bottom feet and abnormal external genitalia and polycystic right kidney 
      was seen after an extensive autopsy. As amniocentesis and cordocentesis materials 
      revealed X chromosome mosaicism, trisomy 7 was detected in the skin fibroblast 
      culture of the ex fetus and karyotype evaluated as composite; 
      46~47,X,+7,-X[cp18]. FISH results confirmed the double aneuploidy and also 
      revealed XX and XXXX cell lines. Comparison with the previously reported cases of 
      trisomy 7 with Potter syndrome suggests a possible link (if not coincidental) 
      between trisomy 7 and Potter syndrome in our case. This is the first reported 
      case of double aneuploidy involving trisomy 7 with the features of Potter 
      syndrome.
FAU - Biri, Aydan
AU  - Biri A
AD  - Department of Obstetrics and Gynecology, Gazi University Faculty of Medicine, 
      Besevler, Ankara 06500, Turkey.
FAU - Karaoguz, Meral Yirmibes
AU  - Karaoguz MY
FAU - Ince, Gonul Didem
AU  - Ince GD
FAU - Ergun, Mehmet Ali
AU  - Ergun MA
FAU - Menevse, Sevda
AU  - Menevse S
FAU - Bingol, Banu
AU  - Bingol B
LA  - eng
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
DEP - 20050209
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
SB  - IM
MH  - Abnormalities, Multiple/diagnostic imaging
MH  - *Chromosomes, Human, Pair 7
MH  - *Chromosomes, Human, X
MH  - Female
MH  - Fetal Growth Retardation/*diagnostic imaging
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Mosaicism
MH  - Oligohydramnios/blood/*diagnostic imaging
MH  - Pregnancy
MH  - Pregnancy Outcome
MH  - *Trisomy
MH  - *Ultrasonography, Prenatal
EDAT- 2005/06/15 09:00
MHDA- 2005/08/11 09:00
CRDT- 2005/06/15 09:00
PHST- 2004/03/08 00:00 [received]
PHST- 2004/06/24 00:00 [accepted]
PHST- 2005/06/15 09:00 [pubmed]
PHST- 2005/08/11 09:00 [medline]
PHST- 2005/06/15 09:00 [entrez]
AID - S1769-7212(05)00012-1 [pii]
AID - 10.1016/j.ejmg.2005.01.006 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2005 Jan-Mar;48(1):67-73. doi: 10.1016/j.ejmg.2005.01.006. Epub 
      2005 Feb 9.