title: Mosaic trisomy 17: variable clinical and cytogenetic presentation.
abstract: Mosaic trisomy 17 is rare with only 28 cases reported and the clinical presentation is highly variable. The diagnosis is most commonly made by prenatal karyotype and in most cases is followed by a normal postnatal karyotype on blood lymphocytes.We present two cases of mosaic trisomy 17 diagnosed prenatally,with follow up in multiple tissues at birth. In the first case,trisomy 17 was identified in all amniocytes, and at birth standard results of chromosome analysis in peripheral blood were normal,but mosaic trisomy 17 was identified (50–75%) in skin fibroblasts by genome-wide SNP array analysis. This patient presented with congenital heart disease, asymmetry, intestinal malrotation, and other anomalies and died on day 9 of life. In the second patient amniocentesis after ultrasound finding of tetralogy of Fallot showed mosaic trisomy 17. Postnatally, results of a SNP array were normal in blood, buccal mucosa, and skin. It is possible that the cardiac defect is related to trisomy 17 in key tissues during heart development, although at birth the aneuploidy could not be identified in tissues that are routinely analyzed for diagnosis. These cases add to our understanding of mosaic trisomy 17, highlighting the failure to diagnose this aneuploidy in peripheral blood.
authors: Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia, PA, USA.
authors: Robert
authors: R
authors: Daber
authors: Kimberly A
authors: KA
authors: Chapman
authors: Eduardo
authors: E
authors: Ruchelli
authors: Stefanie
authors: S
authors: Kasperski
authors: Surabhi
authors: S
authors: Mulchandani
authors: Brian D
authors: BD
authors: Thiel
authors: Hakon
authors: H
authors: Hakonarson
authors: Elaine H
authors: EH
authors: Zackai
authors: Laura K
authors: LK
authors: Conlin
authors: Nancy B
authors: NB
authors: Spinner
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D020732:Cytogenetic Analysis; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D009030:Mosaicism; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011296:Prenatal Diagnosis; D014314:Trisomy / Q000235:genetics* / Q000473:pathology