Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype

Author:

Bone Kathleen M.12ORCID,Chernos Judy E.34,Perrier Renee3,Innes A. Micheil34,Bernier Francois P.34,McLeod Ross3,Thomas Mary Ann34

Affiliation:

1. Division of Anatomic Pathology and Cytopathology, Cytogenetics Laboratory; Calgary Laboratory Service; Calgary Canada

2. Alberta Children's Hospital; Calgary Canada

3. Department of Medical Genetics, Alberta Children's Hospital; University of Calgary; Calgary Canada

4. Alberta Children's Hospital Research Institute, Cumming School of Medicine; University of Calgary; Calgary Canada

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Reference37 articles.

1. Prenatal detection of mosaic t(Y;1) in a fetus with anencephaly and an omphalocele;Kaufman;Am J Hum Genet,1997

2. Mosaic trisomy 1q: the longest surviving case;Patel;Am J Med Genet A,2009

3. Monozygotic twins discordant for partial trisomy 1;Watson;Obstet Gynecol,1990

4. Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: a postzygotic error;Zeng;Am J med Genet a,2003

5. Prenatal diagnosis of de novo trisomy 1(q21-qter)der(Y)t(Y;1) in a malformed live born;Fernandez-Novoa;Prenat Diagn,2004

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