PMID- 16131369
OWN - NLM
STAT- MEDLINE
DCOM- 20051122
LR  - 20050831
IS  - 0914-3505 (Print)
IS  - 0914-3505 (Linking)
VI  - 45
IP  - 3
DP  - 2005 Sep
TI  - Iniencephaly and chromosome mosaicism: a report of two cases.
PG  - 102-5
AB  - We report here two iniencephaly fetuses with chromosome mosaicism. The first 
      fetus (22 weeks) was male with mosaic trisomy 13, and the second fetus (24 weeks) 
      was female with mosaic monosomy X. The first fetus had anencephaly, facial 
      clefting, left-sided rocker bottom foot, equinovarous deformity, bilateral simian 
      crease of hands and horseshoe kidney in addition to iniencephaly. The second 
      fetus had hydrops fetalis with cystic hygroma in addition to iniencephaly. 
      Because the fetuses were sent in formalin, conventional chromosomal analysis was 
      not possible in spite of strong indication. Interphase fluorescence in situ 
      hybridization (FISH) was carried out for targeted aneuploidy analysis. This is 
      fourth published report of chromosomal abnormality in iniencephaly.
FAU - Halder, Ashutosh
AU  - Halder A
AD  - Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical 
      Sciences, Lucknow, India. ashutoshhalder@yahoo.co.in
FAU - Agarwal, Savita
AU  - Agarwal S
FAU - Pandey, Amita
AU  - Pandey A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Australia
TA  - Congenit Anom (Kyoto)
JT  - Congenital anomalies
JID - 9306292
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 13
MH  - Chromosomes, Human, X
MH  - Female
MH  - Fetus/*abnormalities
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/standards
MH  - Male
MH  - Monosomy
MH  - *Mosaicism
MH  - Neural Tube Defects/*genetics
MH  - Pregnancy
MH  - Sex Chromosome Aberrations
MH  - Trisomy
EDAT- 2005/09/01 09:00
MHDA- 2005/12/13 09:00
CRDT- 2005/09/01 09:00
PHST- 2005/09/01 09:00 [pubmed]
PHST- 2005/12/13 09:00 [medline]
PHST- 2005/09/01 09:00 [entrez]
AID - CGA76 [pii]
AID - 10.1111/j.1741-4520.2005.00076.x [doi]
PST - ppublish
SO  - Congenit Anom (Kyoto). 2005 Sep;45(3):102-5. doi: 
      10.1111/j.1741-4520.2005.00076.x.