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

Autor: Hu J; Pittsburgh Cytogenetics Laboratory, UPMC Magee-Womens Hospital, Pittsburgh, Pennsylvania.; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania., Ou Z; Pittsburgh Cytogenetics Laboratory, UPMC Magee-Womens Hospital, Pittsburgh, Pennsylvania., Surti U; 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., Kochmar S; Pittsburgh Cytogenetics Laboratory, UPMC Magee-Womens Hospital, Pittsburgh, Pennsylvania., Hoffner L; Department of Pathology, University of Pittsburgh, UPMC Magee-Womens Hospital, Pittsburgh, Pennsylvania., Madan-Khetarpal S; Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania., Arnold GL; Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania., Walsh L; Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania., Acquaro R; Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania., Sebastian J; Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania., Yatsenko SA; 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.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Apr; Vol. 182 (4), pp. 813-822. Date of Electronic Publication: 2020 Jan 08.

Partial 5p Deletion and Partial 5q Duplication in a Patient with Multiple Congenital Anomalies: A Two-Step Mechanism in Chromosomal Rearrangement Mediated by Non-Allelic Homologous Recombination.

Autor: Ou ZZ, Kochmar S, Yatsenko SA, Woerner AC, Acquaro R, Ortiz D, Surti U, Hu J

Publikováno v: Cytogenetic and genome research [Cytogenet Genome Res] 2018; Vol. 156 (2), pp. 65-70. Date of Electronic Publication: 2018 Oct 05.

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CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.

Autor: Hu J; Pittsburgh Cytogenetics Laboratory, Center of Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA ; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA., Liao J; Pittsburgh Cytogenetics Laboratory, Center of Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA., Sathanoori M; Pittsburgh Cytogenetics Laboratory, Center of Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA ; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA ; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA., Kochmar S; Pittsburgh Cytogenetics Laboratory, Center of Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA., Sebastian J; Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224 USA., Yatsenko SA; Pittsburgh Cytogenetics Laboratory, Center of Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA ; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA ; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA., Surti U; Pittsburgh Cytogenetics Laboratory, Center of Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA ; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA ; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.

Publikováno v: Journal of neurodevelopmental disorders [J Neurodev Disord] 2015; Vol. 7 (1), pp. 26. Date of Electronic Publication: 2015 Aug 06.

Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features.

Autor: Estop, A M, Mowery-Rushton, P A, Cieply, K M, Kochmar, S J, Sherer, C R, Clemens, M, Surti, U, McPherson, E

Publikováno v: Journal of Medical Genetics; Oct1995, Vol. 32 Issue 10, p819-822, 4p