Trisomy 17 Mosaicism Latest Advances

Clonal Evolution in 207 Cases of Refractory or Relapsed Acute Myeloid Leukemia.

Journal: European journal of haematology

Published: June 28, 2024

Dental findings and intravenous sedation in a patient with Potocki-Lupski syndrome: A case report.

Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry

Published: September 29, 2023

Mosaicism for trisomy 17 in a single colony at amniocentesis in a pregnancy associated with a favorable outcome.

Journal: Taiwanese journal of obstetrics & gynecology

Published: March 09, 2023

Low-level mosaic trisomy 17 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy between cultured and uncultured amniocytes.

Journal: Taiwanese journal of obstetrics & gynecology

Published: December 14, 2022

Biphasic squamoid alveolar papillary renal cell carcinoma: A unique papillary renal cell carcinoma with distinctive morphology, immunophenotype and molecular genetic features.

Journal: Pathology, research and practice

Published: May 03, 2022

Prenatal diagnosis of mosaicism for trisomy 17 in a single colony at amniocentesis with a negative non-invasive prenatal testing (NIPT) result in a pregnancy with a favorable outcome.

Journal: Taiwanese journal of obstetrics & gynecology

Published: March 28, 2022

Repair of Protruding Bilateral Cleft Lip and Palate With Staged Premaxilla Setback Osteotomy, Cheiloplasty, and Palatoplasty in Trisomy 17p Patient: A Review of Syndromic Clinical Characteristic.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: December 30, 2021

Papillary renal neoplasm with reverse polarity may be a novel renal cell tumor entity with low malignant potential.

Journal: Diagnostic pathology

Published: December 10, 2021

A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.

Journal: European journal of human genetics : EJHG

Published: November 29, 2021

Potocki-Lupski Syndrome Dup17p11.2 in a Girl with Hypotonia and Early Behavioural Disturbances.

Journal: Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)

Published: October 26, 2021

Detection of placental mosaic trisomy 17 in a pregnancy associated with mosaicism for trisomy 17 in a single colony at amniocentesis with a favorable outcome.

Journal: Taiwanese journal of obstetrics & gynecology

Published: August 05, 2021

Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings.

Journal: BMC medical genomics

Published: April 29, 2021