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Last update 08 May 2025

Chromosome 5, Uniparental Disomy

Last update 08 May 2025

Basic Info

Synonyms

5号染色体，单亲染色体, Chromosome 5, uniparental disomy, Uniparental disomy of 5

Introduction-

Drugs associated with Chromosome 5, Uniparental Disomy

Lenalidomide

Target

CK1α x CRBN x IKZF1 x IKZF3

Mechanism

CK1α inhibitors [+3]

Active Org.

Excel Pharma Studies, Inc.

[+34]

Originator Org.

Celgene Corp.

Active Indication

Large B-cell lymphoma [+67]

Inactive Indication

Aase Smith Syndrome 2 [+111]

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

United States

First Approval Date27 Dec 2005

Clinical Trials associated with Chromosome 5, Uniparental Disomy

NCT00360672

/ CompletedPhase 2IIT

Phase II Study of Lenalidomide in Patients With Relapsed/Refractory Acute Myelogenous Leukemia or High-Risk Myelodysplastic Syndrome Associated With Chromosome 5 Abnormalities

The goal of this clinical research study is to find out if Revlimid can help to control the disease in patients with relapsed/refractory acute myelogenous leukemia (AML) or high-risk myelodysplastic syndrome (MDS) with abnormalities in chromosome number 5. The safety of this treatment will also be studied.

Start Date01 Jan 2009

Sponsor / Collaborator

The University of Texas MD Anderson Cancer Center

[+1]

100 Clinical Results associated with Chromosome 5, Uniparental Disomy

100 Translational Medicine associated with Chromosome 5, Uniparental Disomy

0 Patents (Medical) associated with Chromosome 5, Uniparental Disomy

Literatures (Medical) associated with Chromosome 5, Uniparental Disomy

01 Nov 2020·Taiwanese Journal of Obstetrics and Gynecology

Prenatal diagnosis of maternal uniparental disomy 5 by amniocentesis associated with confined placental mosaicism for trisomy 5 and fetal trisomy 21 in a pregnancy

Author: Wu, Fang-Tzu ; Chern, Schu-Rern ; Town, Dai-Dyi ; Wang, Wayseen ; Chen, Chih-Ping ; Wu, Peih-Shan ; Pan, Chen-Wen ; Wang, Liang-Kai ; Chen, Yun-Yi

OBJECTIVEWe present prenatal diagnosis of maternal uniparental disomy (UPD) 5 by amniocentesis associated with confined placental mosaicism (CPM) for trisomy 5 and fetal trisomy 21 in a pregnancy.CASE REPORTA 45-year-old woman underwent chorionic villus sampling (CVS) at 11 weeks of gestation because of maternal advanced age and an increased nuchal translucency of 4.0 mm in the first-trimester screening. CVS revealed a karyotype of 47,XY,+21[98]/48,XY,+5,+21[25]. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from chorionic villi revealed arr (5) × 3, arr (21) × 3 compatible with double trisomy 5 and trisomy 21. The woman underwent amniocenteses at 20 weeks and 22 weeks of gestation. Amniocenteses revealed a karyotype of 47,XY,+21. The parental karyotypes were normal. Quantitative fluorescent polymerase chain reaction (QF-PCR) on the DNA extracted from uncultured amniocytes showed trisomy 21 of maternal origin and maternal UPD 5. aCGH and interphase fluorescence in situ hybridization (FISH) on uncultured amniocytes confirmed trisomy 21. Prenatal ultrasound findings were unremarkable. The parents decided to continue the pregnancy, and a 2,198-g male baby was delivered at 38 weeks of gestation with characteristic phenotype of Down syndrome of hypertelorism, epicanthic folds and hypoplastic middle phalanx of the fifth fingers. Cytogenetic analysis of cord blood, umbilical cord and placenta revealed a karyotype of 47,XY,+21. QF-PCR analysis of the DNA extracted from placenta revealed double trisomy 5 and trisomy 21 with maternal gene dosage increase in chromosome 5 and chromosome 21.CONCLUSIONPrenatal diagnosis of CPM for trisomy 5 at CVS can be associated with UPD 5 in the fetus, and UPD 5 causes no specific phenotype.

01 Feb 2018·American Journal of Medical Genetics Part A

VACTERL phenotype with mosaic trisomy 5 and uniparental disomy 5

Letter

Author: Rudd, Mary Katharine ; Hwang, Samuel ; Finch, Lisa ; Kapur, Raj P. ; Peterson, Suzanne E.

01 Sep 2017·American Journal of Medical Genetics Part AQ3 · BIOLOGY

A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies

Q3 · BIOLOGY

Article

Author: Helm, Benjamin M. ; Schrier Vergano, Samantha A. ; Gadi, Inder K. ; Reittinger, Andrew M. ; Boles, Debra J.

Mosaic trisomy 5 is a very rare condition in liveborns, with few cases reported in the last four decades. There are some reports of prenatally diagnosed mosaic trisomy 5 resulting in phenotypically normal offspring, suggesting a low level of mosaicism, but there are also reports associated with multiple congenital anomalies, cardiovascular malformations, and intrauterine growth restriction. We report an infant male diagnosed with mosaic trisomy 5 (5/15 cells) via amniocentesis. The patient was subsequently found to have uniparental disomy 5 (UPD5) by postnatal chromosome microarray, but high‐resolution chromosome analysis on peripheral blood did not identify trisomy 5. Dysmorphic features included a tall forehead with low anterior hairline, hypertelorism, low‐set ears, and a prominent nose and midface. Other anomalies included bilateral bifid thumbs, hypospadias, a perineal fistula, unilateral multicystic kidney, and decreased subcutaneous fat with loose skin. He had complex congenital heart disease consisting of ventricular and atrial septal defects and polyvalvular defects. The patient died at age one after a prolonged admission. We add this case to the literature with the added benefit of data from a postnatal microarray, which was not available in other cases, to broaden the phenotype of mosaic trisomy 5 and UPD5.With the current available technology, we stress the importance of postnatal genetic testing to confirm prenatal cytogenetic findings in order to further define such phenotypes. This will provide the most accurate information and counseling to affected families.

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Chromosome 5, Uniparental Disomy

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