PMID- 25420396
OWN - NLM
STAT- MEDLINE
DCOM- 20150202
LR  - 20141125
IS  - 0350-6134 (Print)
IS  - 0350-6134 (Linking)
VI  - 38
IP  - 3
DP  - 2014 Sep
TI  - Prenatal diagnosis of 18p deletion and isochromosome 18q mosaicism in a fetus 
      with a cystic hygroma.
PG  - 1059-62
AB  - Although, deletion of short arm of chromosome 18 is one of the most frequent 
      autosomal terminal deletions, mosaic form of 18p deletion is infrequently 
      observed. Furthermore, prenatally detected cases of 18p deletion and 
      isochromosome 18q mosaicism are extremely rare. Herein, we present a case of 
      del(18p)/i(18q) mosaicism, prenatally detected after chori- onic villus sampling. 
      A 37-year-old woman was referred for prenatal diagnosis because of fetal septated 
      cystic hygroma measuring 4.3 mm. Cytogenetic analysis showed a mosaic 
      46,XX,del(18)(p11.2)/46,XX,i(18)(q10) karyotype in both, short- and long-term 
      culture. Parents elected to terminate the pregnancy. Fetal mosaic karyotype was 
      confirmed by chromosomal analysis of cultured skin fibroblasts. Molecular 
      characterization of chromosome 18 structural aberrations was performed by 
      fluorescence in situ hybridization (FISH). Considering variable ultrasound 
      findings among cases with del(18p)/i(18q) mosaicism, we emphasized that first and 
      second trimester ultrasound screening examinations for fetal malformations, 
      followed by cytogenetic and molecular evaluations, are very important in the 
      management of prenatally detected cases.
FAU - Vicic, Ana
AU  - Vicic A
FAU - Hafner, Tomislav
AU  - Hafner T
FAU - Wagner, Jasenka
AU  - Wagner J
FAU - Stipoljev, Feodora
AU  - Stipoljev F
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Croatia
TA  - Coll Antropol
JT  - Collegium antropologicum
JID - 8003354
RN  - Nuchal bleb, familial
SB  - IM
MH  - Adult
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 18
MH  - Female
MH  - Humans
MH  - Hydrops Fetalis/*diagnosis
MH  - *Isochromosomes
MH  - Lymphangioma, Cystic/*diagnosis
MH  - *Mosaicism
MH  - Pregnancy
MH  - *Prenatal Diagnosis
EDAT- 2014/11/26 06:00
MHDA- 2015/02/03 06:00
CRDT- 2014/11/26 06:00
PHST- 2014/11/26 06:00 [entrez]
PHST- 2014/11/26 06:00 [pubmed]
PHST- 2015/02/03 06:00 [medline]
PST - ppublish
SO  - Coll Antropol. 2014 Sep;38(3):1059-62.