PMID- 11360273
OWN - NLM
STAT- MEDLINE
DCOM- 20010802
LR  - 20220419
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 21
IP  - 5
DP  - 2001 May
TI  - Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 
      21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis.
PG  - 346-50
AB  - A prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 
      21q(21q22.3-->qter) in a fetus with alobar holoprosencephaly (HPE) and 
      premaxillary agenesis (PMA) but without the classical Down syndrome phenotype is 
      reported. A 27-year-old primigravida woman was referred for genetic counselling 
      at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. 
      Level II ultrasonograms manifested alobar HPE and median orofacial cleft. 
      Cytogenetic analysis and fluorescence in situ hybridization (FISH) on cells 
      obtained from amniocentesis revealed partial monosomy 18p and a cryptic 
      duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal 
      t(18;21) reciprocal translocation. The breakpoints were ascertained by molecular 
      genetic analysis. The pregnancy was terminated. Autopsy showed alobar HPE with 
      PMA, pituitary dysplasia, clinodactyly and classical 18p deletion phenotype but 
      without the presence of major typical phenotypic features of Down syndrome. The 
      phenotype of this antenatally diagnosed case is compared with those observed in 
      six previously reported cases with monosomy 18p due to 18;21 translocation. The 
      present study is the first report of concomitant deletion of HPE critical region 
      of chromosome 18p11.3 and cryptic duplication of a small segment of distal 
      chromosome 21q22.3 outside Down syndrome critical region. The present study shows 
      that cytogenetic analyses are important in detecting chromosomal aberrations in 
      pregnancies with prenatally detected craniofacial abnormalities, and adjunctive 
      molecular investigations are useful in elucidating the genetic pathogenesis of 
      dysmorphism.
CI  - Copyright 2001 John Wiley & Sons, Ltd.
FAU - Chen, C P
AU  - Chen CP
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan, Republic of China. cpc_mmh@yahoo.com
FAU - Chern, S R
AU  - Chern SR
FAU - Wang, W
AU  - Wang W
FAU - Lee, C C
AU  - Lee CC
FAU - Chen, W L
AU  - Chen WL
FAU - Chen, L F
AU  - Chen LF
FAU - Chang, T Y
AU  - Chang TY
FAU - Tzen, C Y
AU  - Tzen CY
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - *Chromosomes, Human, Pair 18
MH  - *Chromosomes, Human, Pair 21
MH  - DNA/analysis
MH  - Down Syndrome/*diagnosis/genetics
MH  - Female
MH  - Holoprosencephaly/*diagnosis/genetics
MH  - Humans
MH  - Karyotyping
MH  - Maxillofacial Abnormalities/*diagnosis/genetics
MH  - Microsatellite Repeats/genetics
MH  - Polymerase Chain Reaction
MH  - Pregnancy
MH  - Prenatal Diagnosis/methods
MH  - Translocation, Genetic
MH  - *Trisomy
RF  - 30
EDAT- 2001/05/22 10:00
MHDA- 2001/08/03 10:01
CRDT- 2001/05/22 10:00
PHST- 2001/05/22 10:00 [pubmed]
PHST- 2001/08/03 10:01 [medline]
PHST- 2001/05/22 10:00 [entrez]
AID - 10.1002/pd.63 [doi]
PST - ppublish
SO  - Prenat Diagn. 2001 May;21(5):346-50. doi: 10.1002/pd.63.