PMID- 9228504
OWN - NLM
STAT- MEDLINE
DCOM- 19970905
LR  - 20190816
IS  - 0301-2115 (Print)
IS  - 0301-2115 (Linking)
VI  - 73
IP  - 2
DP  - 1997 Jun
TI  - Case report: denovo inherited 18p deletion in a mother-fetus pair with extremely 
      variable expression, confirmed by fluorescence in situ hybridization (FISH) 
      analysis.
PG  - 193-6
AB  - Denovo deletions of 18p without other associated rearrangement are uncommon. For 
      such a deletion to profoundly affect the fetus of a near normal phenotypic 
      carrier would be rarer. We present such a case in which the chance of a cryptic 
      rearrangement was ruled out by fluorescence in situ hybridization (FISH) 
      analysis. Possible explanations for wide variations in clinical expression are 
      discussed.
FAU - Tonk, V
AU  - Tonk V
AD  - Department of Pediatrics, Texas Tech University Health Sciences Center, Lubbock, 
      USA.
FAU - Krishna, J
AU  - Krishna J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Ireland
TA  - Eur J Obstet Gynecol Reprod Biol
JT  - European journal of obstetrics, gynecology, and reproductive biology
JID - 0375672
SB  - IM
MH  - Adult
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 18
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Maternal-Fetal Exchange/*genetics
MH  - Phenotype
MH  - Pregnancy
EDAT- 1997/06/01 00:00
MHDA- 1997/06/01 00:01
CRDT- 1997/06/01 00:00
PHST- 1997/06/01 00:00 [pubmed]
PHST- 1997/06/01 00:01 [medline]
PHST- 1997/06/01 00:00 [entrez]
AID - S0301211597027498 [pii]
AID - 10.1016/s0301-2115(97)02749-8 [doi]
PST - ppublish
SO  - Eur J Obstet Gynecol Reprod Biol. 1997 Jun;73(2):193-6. doi: 
      10.1016/s0301-2115(97)02749-8.