Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome

Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome

Three years ago, our patient, at that time a 16-month-old boy, was discovered to have bilateral kidney lesions with a giant tumor in the right kidney. Chemotherapy and bilateral nephron-sparing surgery (NSS) for Wilms tumor with nephroblastomatosis was carried out. The patient also had eye affection...

Full description

Saved in:
Bibliographic Details
Published in:International journal of molecular sciences Vol. 24; no. 23; p. 16923
Main Authors: Marakhonov, Andrey V, Vasilyeva, Tatyana A, Minzhenkova, Marina E, Sukhanova, Natella V, Sparber, Peter A, Andreeva, Natalya A, Teleshova, Margarita V, Baybagisova, Fatima K-M, Shilova, Nadezhda V, Kutsev, Sergey I, Zinchenko, Rena A
Format: Journal Article
Language:English
Published: Switzerland MDPI AG 01-12-2023
Subjects:
Age
Cancer
Chemotherapy
Chromosomes
complex chromosomal rearrangement
congenital aniridia
Congenital diseases
Cornea
Genetic disorders
genetic testing
Glaucoma
Intellectual disabilities
Kidneys
nephroblastoma
Patients
Penis
Surgery
WAGR syndrome
Wilms tumor
Germany
complex chromosomal rearrangement
nephroblastoma
WAGR syndrome
WT1
genetic testing
LMO2
Wilms tumor
congenital aniridia
PAX6
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Three years ago, our patient, at that time a 16-month-old boy, was discovered to have bilateral kidney lesions with a giant tumor in the right kidney. Chemotherapy and bilateral nephron-sparing surgery (NSS) for Wilms tumor with nephroblastomatosis was carried out. The patient also had eye affection, including glaucoma, eye enlargement, megalocornea, severe corneal swelling and opacity, complete aniridia, and nystagmus. The diagnosis of WAGR syndrome was suspected. De novo complex chromosomal rearrangement with balanced translocation t(10,11)(p15;p13) and a pericentric inversion inv(11)(p13q12), accompanied by two adjacent 11p14.1p13 and 11p13p12 deletions, were identified. Deletions are raised through the complex molecular mechanism of two subsequent rearrangements affecting chromosomes 11 and 10. WAGR syndrome diagnosis was clinically and molecularly confirmed, highlighting the necessity of comprehensive genetic testing in patients with congenital aniridia and/or WAGR syndrome.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms242316923