Prenatally detected true double trisomy mosaic 12 and 13 not confirmed in fetal and placental tissues by conventional cytogenetic methods, but suggested by FISH analysis [2]

Prenatal Diagnosis

Volumn 20, Issue 11, 2000, Pages 934-935

  Djalali, M ^a   Merk, O ^a   Storli, K ^b   Vogel, W ^a  

^a Department of Human Genetics Ulm ^*  (Germany)

^b Central Clinic   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMNIOTIC FLUID CELL; AUTOPSY; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE 46,XX; LETTER; METAPHASE; PHENOTYPE; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TRISOMY 12; TRISOMY 13;

ADULT; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 13; FEMALE; FETUS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MOSAICISM; PLACENTA; PREGNANCY; PREGNANCY, HIGH-RISK; TRISOMY;

EID: 0033646245     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/1097-0223(200011)20:11<934::AID-PD920>3.0.CO;2-S     Document Type: Letter

References (16)

1. Prenatal confirmation of trisomy 12 mosaicism by fetal skin biopsy
2. Trisomy 13 mosaicism at prenatal diagnosis: Dilemmas in interpretation
3. Mosaic trisomy 17 in amniotic fluid cells not confirmed in the newborn
4. Further observation of true mosaic trisomy 17 ascertained in amniotic fluid cell cultures
5. Trisomy 17 mosaicism in amniotic fluid cells not found at birth in blood but present in skin fibroblasts
6. Low-level mosaicism for both trisomy 15 and monosomy-X in amniotic fluid cells confirmed in fetal tissues
7. Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: Karyotype/phenotype correlations
8. +mosaicism in amniocytes associated with fetal abnormalities despite normal fetal blood karyotype
9. Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
10. The utilization of interphase cytogenetic analysis for the detection of mosaicism
11. Prenatal interphase detection by FISH of a sex chromosome mosaicism when cytogenetics reports a pseudomosaicism
12. Trisomy 5 mosaicism detected prenatally with an affected liveborn
13. An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis
14. Analysis of mosaic states in amniotic fluid using the in situ colony technique
15. Chromosome mosaicism in 6000 amniocenteses
16. Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection