title: A case of constitutional trisomy 3 mosaicism in a teenage patient with mild phenotype.
abstract: Constitutional mosaicism for trisomy 3 is extremely rare, with only a few postnatally diagnosed cases reported in the literature. We report a case of constitutional trisomy 3 mosaicism in a 16-year-old female, who presented with chronic joint pain, easy bruising, joint hypermobility and dysmorphic features, including long, thin facies, over-folded dysplastic ears, and Pierre-Robin sequence (PRS) with cleft palate. The patient was small at birth, had cleft palate repair, developed chronic joint pain at age 12, and has a history of mild leukopenia and mild thrombocytopenia. Microarray analysis was consistent with a mosaic gain of an entire chromosome 3. FISH analysis of peripheral blood and buccal cells showed the presence of the supernumerary chromosome 3 in a low percentage of cells in both tissues, suggesting that the nondisjunction event occurred prior to the germ cell layer differentiation. Since trisomy 3 has been observed somatically in lymphoma, a Hematology/Oncology consultation was provided for the patient. The oncologist's evaluation for malignancy was unremarkable. A review of findings from other trisomy 3 patients reported in the literature reveals a diverse phenotypic spectrum and does not show a correlation between the proportion of abnormal cells observed in peripheral blood and the patients' clinical features or severity. This case demonstrates that the clinical presentation of an individual with trisomy 3 is highly individualized and the clinical course is difficult to predict.
authors.affiliation: Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
authors.forename: Mariana
authors.initials: M
authors.lastname: Kekis
authors.affiliation: Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.
authors.forename: Sayaka
authors.initials: S
authors.lastname: Hashimoto
authors.affiliation: Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
authors.forename: Carol
authors.initials: C
authors.lastname: Deeg
authors.affiliation: Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
authors.forename: Inga
authors.initials: I
authors.lastname: Calloway
authors.affiliation: Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
authors.forename: Aimee
authors.initials: A
authors.lastname: McKinney
authors.affiliation: Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.
authors.forename: Christine
authors.initials: C
authors.lastname: Shuss
authors.affiliation: Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.
authors.forename: Scott
authors.initials: S
authors.lastname: Hickey
authors.affiliation: Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA. Electronic address: caroline.astbury@nationwidechildrens.org.
authors.forename: Caroline
authors.initials: C
authors.lastname: Astbury
mesh_terms: D000293:Adolescent; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D010641:Phenotype; D014314:Trisomy / Q000235:genetics*
keywords: Aneuploidy; Germline; Joint hypermobility; Mosaicism; Trisomy 3