We present an unusual case of trisomy 18 due to a pseudodicentric chromosome 18 of paternal origin. The karyotype was: 46,XY, -18, +psu dic(18)(qter-->cen-->p11.31::p11.31-->psucen-->qter). The origin of the abnormal chromosome was verified by FISH with a painting probe from chromosome 18. Absence of short-arm telomeres was shown by multicolor FISH, and the results of DNA analysis showed monosomy for loci D18S59 and D18S170 as well as paternal inheritance of the aberrant chromosome. The child's phenotype was characteristic of trisomy 18.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1399-0004.1997.tb02515.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Prenatal diagnosis of dicentric chromosome X mosaicism: a case report and review.
Front Genet
July 2024
Department of Laboratory Medicine, Quzhou Maternal and Child Healthcare Hospital, Quzhou, Zhejiang, China.
Article Synopsis
- A 39-year-old woman with a pregnancy showing multiple anomalies underwent amniocentesis, revealing a rare mosaicism and a pseudo-dicentric chromosome X.
- Genetic testing uncovered pathogenic copy number variations, leading the parents to decide to terminate the pregnancy, highlighting the need for effective genetic counseling in such situations.
[Clinical and genetic characteristic in patients with disorders of sex development caused by Y chromosome copy number variant].
Zhonghua Er Ke Za Zhi
May 2023
Prenatal and Genetic Diagnosis Center, Department of Gynaecology and Obstetrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
To investigate the clinical phenotype and genetic characteristics of disorders of sex development (DSD) caused by Y chromosome copy number variant (CNV). A retrospective analysis was performed on 3 patients diagnosed with DSD caused by Y chromosome CNV admitted to the First Affiliated Hospital of Zhengzhou University from January, 2018 to September, 2022. Clinical data were collected.
View Article and Find Full Text PDFPseudodicentric Chromosome Originating from an X-Autosome Translocation in a Male Patient with Cryptozoospermia.
Cytogenet Genome Res
October 2022
Cytogenetics and Cell Biology Department, Rennes University Hospital, Rennes, France.
Genetic factors are responsible for 15% of male infertility conditions. Numerical and structural chromosomal anomalies are validated genetic factors leading to spermatogenic quantitative defects, with a frequency depending on the severity of the phenotype. Among the structural chromosomal rearrangements, dicentric chromosomes are generally observed in robertsonian translocations or in cases of Y chromosome isodicentrics.
View Article and Find Full Text PDFDetection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotype.
Gynecol Endocrinol
April 2021
Genesis Genoma Lab, Genetic Diagnosis, Clinical Genetics & Research, Athens, Greece.
Objective: To describe a novel unbalanced X;21 translocation resulting in a derivative pseudodicentric chromosome X;21 lacking the critical region for ovarian development and function, in a 16-year-old girl referred for cytogenetic analysis due to primary amenorrhea and Turner-like features.
Methods: Cytogenetic analysis of the proband and her parents was performed on peripheral blood lymphocytes by GTG banding. Molecular cytogenetic FISH analysis was performed on metaphase preparations, using X chromosome centromeric probe and telomeric and pancentromeric peptide nucleic acid (PNA) analog probes.
Genetic factors are responsible for 15% of male infertility conditions. Numerical and structural chromosomal anomalies (related to the Y chromosome or to the autosomes) are validated genetic factors leading to spermatogenic quantitative defects with a frequency depending on the severity of the phenotype. The most frequent structural chromosomal rearrangements of autosomes are translocations and inversions, whereas dicentric chromosomes involving autosomes are rare.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!