PMID- 10869109
OWN - NLM
STAT- MEDLINE
DCOM- 20000714
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 93
IP  - 2
DP  - 2000 Jul 17
TI  - Prenatal diagnosis of inverted duplicated 8p.
PG  - 94-8
AB  - The phenotype of inverted duplicated 8p, region 8p11.2-p23, reported in children 
      and adults, includes: severe mental retardation, minor facial anomalies, agenesis 
      of corpus callosum, and other malformations including those of heart and kidneys. 
      We report on the prenatal diagnosis of 2 cases of inverted duplication 8p. Both 
      cases were ascertained by abnormal level 2 ultrasound findings. Case 1 presented 
      at 16.5 weeks of gestation with massive distention of the fetal bladder, 
      bilateral hydronephrosis, abnormality of the lower lumbar spine, absence of the 
      sacral spine and a Dandy-Walker variant (interhemispheric cyst and enlarged third 
      ventricle). Case 2 presented at 30 weeks of gestation with agenesis of corpus 
      callosum, slightly enlarged lateral ventricles, interhemispheric cyst and 
      enlarged third ventricle, and possible coarctation of the aorta. The intracranial 
      and cardiac anomalies were confirmed and further defined after delivery. 
      Cytogenetic analysis in both cases showed additional material on 8p. In both 
      cases, fluorescence in situ hybridization (FISH) defined the abnormal chromosome, 
      as a pseudodicentric chromosome with duplication of the short arm from centromere 
      to p23 and deletion from p23 to pter. Our findings support those of prior reports 
      of the inverted duplicated 8p chromosome with multiple anomalies and add prenatal 
      findings to our knowledge.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Macmillin, M D
AU  - Macmillin MD
AD  - Genetics Department Harvard Vanguard Medical Associates, Boston, MA 02215, USA. 
      martha_macmillin@vmed.org
FAU - Suri, V
AU  - Suri V
FAU - Lytle, C
AU  - Lytle C
FAU - Krauss, C M
AU  - Krauss CM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Adult
MH  - Chromosome Aberrations/*genetics
MH  - Chromosome Inversion
MH  - Chromosomes, Human, Pair 8/*genetics
MH  - Female
MH  - Fetus/metabolism
MH  - Gestational Age
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Pregnancy
MH  - *Prenatal Diagnosis
EDAT- 2000/06/27 11:00
MHDA- 2000/07/25 11:00
CRDT- 2000/06/27 11:00
PHST- 2000/06/27 11:00 [pubmed]
PHST- 2000/07/25 11:00 [medline]
PHST- 2000/06/27 11:00 [entrez]
AID - 10.1002/1096-8628(20000717)93:2<94::AID-AJMG3>3.0.CO;2-3 [pii]
AID - 10.1002/1096-8628(20000717)93:2<94::aid-ajmg3>3.0.co;2-3 [doi]
PST - ppublish
SO  - Am J Med Genet. 2000 Jul 17;93(2):94-8. doi: 
      10.1002/1096-8628(20000717)93:2<94::aid-ajmg3>3.0.co;2-3.