BIOMAT Database Logo BIOMAT Database Logo

Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlations. 2000

R Wallerstein, and M T Yu, and R L Neu, and P Benn, and C Lee Bowen, and B Crandall, and C Disteche, and R Donahue, and B Harrison, and D Hershey, and R R Higgins, and L S Jenkins, and C Jackson-Cook, and E Keitges, and G Khodr, and C C Lin, and F W Luthardt, and L Meisner, and G Mengden, and S R Patil, and M Rodriguez, and L J Sciorra, and L G Shaffer, and G Stetten, and D L Van Dyke, and H Wang
New York University School of Medicine, New York, NY 10016, USA.

Karyotype-phenotype correlations of common trisomy mosaicism prenatally diagnosed via amniocentesis was reviewed in 305 new cases from a collaboration of North American cytogenetic laboratories. Abnormal outcome was noted in 10/25 (40%) cases of 47,+13/46, 17/31 (54%) cases of 47,+18/46, 10/152 (6.5%) cases of 47,+20/46, and in 49/97 (50%) cases of 47,+21/46 mosaicism. Risk of abnormal outcome in pregnancies with less than 50% trisomic cells and greater than 50% trisomic cells were: 26% (4/15) versus 60% (6/10) for 47,+13/46, 52% (11/21) versus 75% (6/8) for 47,+18/46, 4.5% (6/132) versus 20% (4/20) 47,+20/46, and 45% (27/60) versus 59% (22/37) for 47,+21/46. Phenotypically normal liveborns were observed with mean trisomic cell lines of 9.3% for 47,+13/46, 8.6% for 47,+18/46, 27% for 47, +20/46, and 17% for 47,+21/46. Cytogenetic confirmation rates were 46% (6/13 cases) for 47,+13/46 mosaicism, 66% (8/12 cases) for 47, +18/46, 10% (10/97 cases) for 47,+20/46, and 44% (24/54 cases) for 47,+21/46. There were higher confirmation rates in pregnancies with abnormal versus normal outcome: 50% versus 44% for 47,+13/46 mosaicism, 100% versus 33% for 47,+18/46, 66% versus 7% for 47, +20/46, and 55% versus 40% for 47,+21/46. Repeat amniocentesis is not helpful in predicting clinical outcome. It may be considered when there is insufficient number of cells or cultures to establish a diagnosis. Fetal blood sampling may have a role in mosaic trisomy 13, 18, and 21 as the risk for abnormal outcome increases with positive confirmation: 1/5 (20%) normal cases versus 5/8 (62%) abnormal cases. High resolution ultrasound examination(s) is recommended for clinical correlation and to facilitate genetic counselling.

UI MeSH Term Description Entries
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011256 Pregnancy Outcome Results of conception and ensuing pregnancy, including LIVE BIRTH; STILLBIRTH; or SPONTANEOUS ABORTION. The outcome may follow natural or artificial insemination or any of the various ASSISTED REPRODUCTIVE TECHNIQUES, such as EMBRYO TRANSFER or FERTILIZATION IN VITRO. Outcome, Pregnancy,Outcomes, Pregnancy,Pregnancy Outcomes
D002882 Chromosomes, Human, Pair 13 A specific pair of GROUP D CHROMOSOMES of the human chromosome classification. Chromosome 13
D002887 Chromosomes, Human, Pair 18 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 18
D002890 Chromosomes, Human, Pair 20 A specific pair of GROUP F CHROMOSOMES of the human chromosome classification. Chromosome 20
D004314 Down Syndrome A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D005260 Female Females

Related Publications

R Wallerstein, and M T Yu, and R L Neu, and P Benn, and C Lee Bowen, and B Crandall, and C Disteche, and R Donahue, and B Harrison, and D Hershey, and R R Higgins, and L S Jenkins, and C Jackson-Cook, and E Keitges, and G Khodr, and C C Lin, and F W Luthardt, and L Meisner, and G Mengden, and S R Patil, and M Rodriguez, and L J Sciorra, and L G Shaffer, and G Stetten, and D L Van Dyke, and H Wang
Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations.
March 1997, Prenatal diagnosis,
R Wallerstein, and M T Yu, and R L Neu, and P Benn, and C Lee Bowen, and B Crandall, and C Disteche, and R Donahue, and B Harrison, and D Hershey, and R R Higgins, and L S Jenkins, and C Jackson-Cook, and E Keitges, and G Khodr, and C C Lin, and F W Luthardt, and L Meisner, and G Mengden, and S R Patil, and M Rodriguez, and L J Sciorra, and L G Shaffer, and G Stetten, and D L Van Dyke, and H Wang
Current knowledge of prenatal diagnosis of mosaic autosomal trisomy in amniocytes: karyotype/phenotype correlations.
September 2015, Prenatal diagnosis,
R Wallerstein, and M T Yu, and R L Neu, and P Benn, and C Lee Bowen, and B Crandall, and C Disteche, and R Donahue, and B Harrison, and D Hershey, and R R Higgins, and L S Jenkins, and C Jackson-Cook, and E Keitges, and G Khodr, and C C Lin, and F W Luthardt, and L Meisner, and G Mengden, and S R Patil, and M Rodriguez, and L J Sciorra, and L G Shaffer, and G Stetten, and D L Van Dyke, and H Wang
Double aneuploidy mosaicism involving chromosomes 18 and 21 in a neonate.
January 2022, Molecular cytogenetics,
R Wallerstein, and M T Yu, and R L Neu, and P Benn, and C Lee Bowen, and B Crandall, and C Disteche, and R Donahue, and B Harrison, and D Hershey, and R R Higgins, and L S Jenkins, and C Jackson-Cook, and E Keitges, and G Khodr, and C C Lin, and F W Luthardt, and L Meisner, and G Mengden, and S R Patil, and M Rodriguez, and L J Sciorra, and L G Shaffer, and G Stetten, and D L Van Dyke, and H Wang
Discrepancy in the trisomy mosaicism level between cultured amniocytes and uncultured amniocytes in prenatally detected mosaic trisomy 20.
March 2013, Taiwanese journal of obstetrics & gynecology,
R Wallerstein, and M T Yu, and R L Neu, and P Benn, and C Lee Bowen, and B Crandall, and C Disteche, and R Donahue, and B Harrison, and D Hershey, and R R Higgins, and L S Jenkins, and C Jackson-Cook, and E Keitges, and G Khodr, and C C Lin, and F W Luthardt, and L Meisner, and G Mengden, and S R Patil, and M Rodriguez, and L J Sciorra, and L G Shaffer, and G Stetten, and D L Van Dyke, and H Wang
Trisomy 13/trisomy 18 mosaicism in an infant.
November 1996, Clinical genetics,
R Wallerstein, and M T Yu, and R L Neu, and P Benn, and C Lee Bowen, and B Crandall, and C Disteche, and R Donahue, and B Harrison, and D Hershey, and R R Higgins, and L S Jenkins, and C Jackson-Cook, and E Keitges, and G Khodr, and C C Lin, and F W Luthardt, and L Meisner, and G Mengden, and S R Patil, and M Rodriguez, and L J Sciorra, and L G Shaffer, and G Stetten, and D L Van Dyke, and H Wang
Fetal trisomy 13 and 21 mosaicism diagnosed at amniocentesis: a case report.
October 2009, Prenatal diagnosis,
R Wallerstein, and M T Yu, and R L Neu, and P Benn, and C Lee Bowen, and B Crandall, and C Disteche, and R Donahue, and B Harrison, and D Hershey, and R R Higgins, and L S Jenkins, and C Jackson-Cook, and E Keitges, and G Khodr, and C C Lin, and F W Luthardt, and L Meisner, and G Mengden, and S R Patil, and M Rodriguez, and L J Sciorra, and L G Shaffer, and G Stetten, and D L Van Dyke, and H Wang
Detection of aneuploidy involving chromosomes 13, 18, or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes.
July 1991, American journal of human genetics,
R Wallerstein, and M T Yu, and R L Neu, and P Benn, and C Lee Bowen, and B Crandall, and C Disteche, and R Donahue, and B Harrison, and D Hershey, and R R Higgins, and L S Jenkins, and C Jackson-Cook, and E Keitges, and G Khodr, and C C Lin, and F W Luthardt, and L Meisner, and G Mengden, and S R Patil, and M Rodriguez, and L J Sciorra, and L G Shaffer, and G Stetten, and D L Van Dyke, and H Wang
Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic double trisomy involving trisomy 7 and trisomy 20 (48,XY,+7,+20) at amniocentesis.
January 2020, Taiwanese journal of obstetrics & gynecology,
R Wallerstein, and M T Yu, and R L Neu, and P Benn, and C Lee Bowen, and B Crandall, and C Disteche, and R Donahue, and B Harrison, and D Hershey, and R R Higgins, and L S Jenkins, and C Jackson-Cook, and E Keitges, and G Khodr, and C C Lin, and F W Luthardt, and L Meisner, and G Mengden, and S R Patil, and M Rodriguez, and L J Sciorra, and L G Shaffer, and G Stetten, and D L Van Dyke, and H Wang
Trisomy 18 and trisomy 21 mosaicism in a Down's syndrome patient.
May 1994, Journal of medical genetics,
R Wallerstein, and M T Yu, and R L Neu, and P Benn, and C Lee Bowen, and B Crandall, and C Disteche, and R Donahue, and B Harrison, and D Hershey, and R R Higgins, and L S Jenkins, and C Jackson-Cook, and E Keitges, and G Khodr, and C C Lin, and F W Luthardt, and L Meisner, and G Mengden, and S R Patil, and M Rodriguez, and L J Sciorra, and L G Shaffer, and G Stetten, and D L Van Dyke, and H Wang
Mosaicism for trisomy 17-18 and trisomy 13-15 in man.
September 1965, Nature,
Copied contents to your clipboard!