Prenatal diagnosis of mosaic trisomy 8q studied by ultrasound, cytogenetics, and array‐CGH

Mosaic trisomy 8, also known as Warkany syndrome, has a well‐characterized constellation of phenotypic findings. Partial trisomy 8, including mosaic cases, has also been reported, with outcome and counseling dependent on the chromosomal segment involved and whether accompanied by partial aneuploidy...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2008-03, Vol.146A (6), p.764-769
Main Authors: Wood, Elizabeth, Dowey, Sarah, Saul, Daniel, Cain, Colyn, Rossiter, Judith, Blakemore, Karin, Stetten, Gail
Format: Article
Language:English
Subjects:
Adult
Amniocentesis
array‐CGH
Biological and medical sciences
Chromosome aberrations
Chromosomes, Human, Pair 8
Classical genetics, quantitative genetics, hybrids
Cytogenetic Analysis
Female
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
Human
Humans
Medical genetics
Medical sciences
Mosaicism
Nucleic Acid Hybridization - methods
Oligonucleotide Array Sequence Analysis
Pregnancy
Trisomy - diagnosis
Trisomy - genetics
trisomy 8q
Ultrasonography, Prenatal
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Summary:Mosaic trisomy 8, also known as Warkany syndrome, has a well‐characterized constellation of phenotypic findings. Partial trisomy 8, including mosaic cases, has also been reported, with outcome and counseling dependent on the chromosomal segment involved and whether accompanied by partial aneuploidy for other chromosomes. We present a case of a fetus mosaic for trisomy of the entire long arm (q) of chromosome 8 without additional chromosomal aberrations. The diagnosis was made by amniocentesis performed following an 18 week sonogram that showed multiple fetal anomalies. Mosaicism for trisomy 8q was confirmed by routine karyotyping and fluorescent in situ hybridization (FISH) analysis. The case proved useful for testing the sensitivity of array comparative genomic hybridization (array‐CGH) with respect to segmental trisomy in the presence of chromosomal mosaicism. The phenotype of this fetus, which appears to be the first reported case involving mosaic trisomy 8 for the entire q arm of the chromosome, is described and compared to previously reported cases involving partial trisomy 8q. © 2008 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32184