Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.

Jie Hu, Zhishuo Ou, Urvashi Surti, Sally Kochmar, Lori Hoffner, Suneeta Madan-Khetarpal, Georgianne L Arnold, Leslie Walsh, Roxanne Acquaro, Jessica Sebastian, Svetlana A Yatsenko

Journal: American journal of medical genetics. Part A 2021;182(4):813-822

PMID: 31913574

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Abstract

Children or adults with mosaic trisomy 12 diagnosed postnatally are extremely rare. Only a small number of patients with this mosaicism have been reported in the literature. The clinical manifestation of mosaic trisomy 12 is variable, ranging from mild developmental delay to severe congenital anomaly and neonatal death. The trisomy 12 cells are not usually able to be detected by phytohemagglutinin stimulated peripheral blood chromosome analysis. The variability of phenotypes and the limited number of patients with this anomaly pose a challenge to predict the clinical outcomes. In this study, we present the phenotypes and laboratory findings in four patients and review the 11 previously reported patients with mosaic trisomy 12 diagnosed postnatally, as well as 11 patients with mosaic trisomy 12 diagnosed prenatally. The findings of this study provide useful information for laboratory diagnosis and clinical management of these patients.

Address: Pittsburgh Cytogenetics Laboratory, UPMC Magee-Womens Hospital, Pittsburgh, Pennsylvania.; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.; Department of Pathology, University of Pittsburgh, UPMC Magee-Womens Hospital, Pittsburgh, Pennsylvania.; Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania.

DOI: 10.1002/ajmg.a.61482

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MeSH Terms: Abnormalities, Multiple, Child, Child, Preschool, Chromosome Disorders, Chromosomes, Human, Pair 12, Congenital Abnormalities, Developmental Disabilities, Female, Genetic Testing, Humans, Infant, Infant, Newborn, Male, Mosaicism, Phenotype, Prenatal Diagnosis, Trisomy