PMID- 9602489
OWN - NLM
STAT- MEDLINE
DCOM- 19980717
LR  - 20161124
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 18
IP  - 4
DP  - 1998 Apr
TI  - Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, 
      alobar holoprosencephaly and cebocephaly in a fetus.
PG  - 393-8
AB  - We report on the prenatal diagnosis, genetic studies, and pathology of a case 
      with de novo isochromosome 13q. A 31-year-old primigravida was referred for 
      genetic counselling at 26 weeks' gestation due to the sonographic findings of 
      intrauterine growth retardation and microcephaly. Level II ultrasonograms further 
      demonstrated alobar holoprosencephaly, hypotelorism, polydactyly, a ventricular 
      septal defect, and a single nostril. A diagnosis of cebocephaly was made. Genetic 
      amniocentesis and cord blood sampling revealed translocation trisomy 13 with a de 
      novo t(13q13q) rearrangement. Chromosomal analysis using G- and C-banding 
      techniques and fluorescence in situ hybridization (FISH) showed an apparent 
      monocentric isochromosome. Molecular analyses using polymorphic molecular markers 
      showed that the rearrangement was consistent with an isochromosome of maternal 
      chromosome 13q[46,XX,i(13)(q10)]. Necropsy confirmed cebocephaly and the 
      prenatally detected anomalies.
FAU - Chen, C P
AU  - Chen CP
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan, Republic of China.
FAU - Chern, S R
AU  - Chern SR
FAU - Lee, C C
AU  - Lee CC
FAU - Chen, L F
AU  - Chen LF
FAU - Chuang, C Y
AU  - Chuang CY
FAU - Chen, M H
AU  - Chen MH
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - *Chromosomes, Human, Pair 13
MH  - Craniofacial Abnormalities/*diagnostic imaging
MH  - Female
MH  - Gestational Age
MH  - Holoprosencephaly/diagnostic imaging
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Isochromosomes
MH  - Karyotyping
MH  - Microcephaly/diagnostic imaging
MH  - Pregnancy
MH  - *Ultrasonography, Prenatal
EDAT- 1998/05/29 02:02
MHDA- 2000/06/20 09:00
CRDT- 1998/05/29 02:02
PHST- 1998/05/29 02:02 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1998/05/29 02:02 [entrez]
AID - 10.1002/(SICI)1097-0223(199804)18:4<393::AID-PD277>3.0.CO;2-Q [pii]
PST - ppublish
SO  - Prenat Diagn. 1998 Apr;18(4):393-8.