Trisomy 17 Mosaicism Latest Advances

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

Journal: European journal of human genetics : EJHG

Published: May 01, 2025

A case of mosaic trisomy 17 with inconsistent findings between noninvasive prenatal testing and genetic amniocentesis.

Journal: Taiwanese journal of obstetrics & gynecology

Published: October 14, 2024

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

Trisomy 17 Mosaicism Latest Advances

Find the Latest Research About Trisomy 17 Mosaicism

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

A case of mosaic trisomy 17 with inconsistent findings between noninvasive prenatal testing and genetic amniocentesis.

A case of mosaic trisomy 17 with inconsistent findings between noninvasive prenatal testing and genetic amniocentesis.

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

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

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

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

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

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

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

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

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

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

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.

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.

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.

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.

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

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

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

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

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

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