PMID- 12116238
OWN - NLM
STAT- MEDLINE
DCOM- 20021008
LR  - 20051116
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 110
IP  - 3
DP  - 2002 Jul 1
TI  - Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: 
      clinical report and review of the literature.
PG  - 278-82
AB  - We report cytogenetic and molecular findings performed in a patient with double 
      mosaic aneuploidy. Chromosome analysis of amniotic fluid cells from a 17-week-old 
      fetus was performed because of advanced maternal age. Two karyotypes were 
      detected: 45,X and 47,XX,+18 (50:50%). The same cell lines were determined in 
      uncultured and cultured amniocytes of a second amniotic fluid sample, in fetal 
      lymphocytes, and in uncultured and cultured cells of achilles tendon by 
      conventional cytogenetics and fluorescence in situ hybridization (FISH). In the 
      different investigated tissues, the percentage of cells with 45,X karyotype 
      ranged from 20-99% and the percentage of cells with 47,XX,+18 ranged from 1-80%. 
      The pregnancy was terminated at 22 + 0 weeks because of a severe cardiac 
      malformation. Pathologic examination showed a fetus with aspects typical for 
      manifestation of trisomy 18 and monosomy X, especially in the internal organs. 
      The parent and cell stage of origin was determined by short tandem repeat typing 
      and revealed a maternal meiotic division error that led to trisomy 18, as well as 
      a somatic loss of a paternal sex chromosome. Only two other patients with the 
      same mosaicism have been reported so far. Genetic counseling and prognosis 
      remains challenging.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Schubert, Regine
AU  - Schubert R
AD  - Institute of Human Genetics, University of Bonn, Bonn, Germany. 
      regine.schubert@ukb.uni-bonn.de
FAU - Eggermann, Thomas
AU  - Eggermann T
FAU - Hofstaetter, Cornelia
AU  - Hofstaetter C
FAU - von Netzer, Barbara
AU  - von Netzer B
FAU - Knopfle, Gisela
AU  - Knopfle G
FAU - Schwanitz, Gesa
AU  - Schwanitz G
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - Cells, Cultured
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 18/*genetics
MH  - Embryonic and Fetal Development/genetics
MH  - Fatal Outcome
MH  - Female
MH  - Fetal Death
MH  - Fetus/abnormalities
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Microsatellite Repeats
MH  - Mosaicism
MH  - Pregnancy
MH  - Sex Chromosome Aberrations
MH  - X Chromosome/*genetics
RF  - 16
EDAT- 2002/07/13 10:00
MHDA- 2002/10/09 04:00
CRDT- 2002/07/13 10:00
PHST- 2002/07/13 10:00 [pubmed]
PHST- 2002/10/09 04:00 [medline]
PHST- 2002/07/13 10:00 [entrez]
AID - 10.1002/ajmg.10442 [doi]
PST - ppublish
SO  - Am J Med Genet. 2002 Jul 1;110(3):278-82. doi: 10.1002/ajmg.10442.