An isodicentric X chromosome, idic (X)(q27) was found in a female fetus during cytogenetic studies performed on amniotic cells due to advanced maternal age. No mosaicism was observed. Although segmental inversion duplications have been described for several other chromosomes, isodicentric chromosomes are reported only for gonosomes. Genetic counselling was based on ultrasound findings, cytogenetic replication studies and published cases of X chromosomes duplications ascertained pre- and postnatally. The pregnancy resulted in the birth of a healthy female infant.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/pd.444 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Structural Variation Interpretation in the Genome Sequencing Era: Lessons from Cytogenetics.
Clin Chem
January 2025
Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, United States.
Background: Structural variation (SV), defined as balanced and unbalanced chromosomal rearrangements >1 kb, is a major contributor to germline and neoplastic disease. Large variants have historically been evaluated by chromosome analysis and now are commonly recognized by chromosomal microarray analysis (CMA). The increasing application of genome sequencing (GS) in the clinic and the relatively high incidence of chromosomal abnormalities in sick newborns and children highlights the need for accurate SV interpretation and reporting.
View Article and Find Full Text PDF45,X[2]/46,X,der(Y).ish Psu idic(Y)(q11.2)[38] mosaic karyotype in mixed gonadal dysgenesis: a case report and literature review.
Front Pediatr
October 2024
Pediatric Clinical Research Centre of Hebei Province, Children's Hospital of Hebei Province, Shijiazhuang, Hebei, China.
Mixed gonadal dysgenesis is caused by a variety of chromosome abnormalities, most commonly Y chromosome mosaicism. An 8-year-old boy presented with short stature for possible treatment with recombinant growth hormone. He had a history of mixed gonadal dysgenesis (hypospadias, bilateral cryptorchidism, processus vaginalis, and dysplastic immature uterus) and a series of corrective surgeries.
View Article and Find Full Text PDFMixed Gonadal Dysgenesis with 45,X/46,X,idic(Y)/46,XY Karyotype: A Case Report.
J Reprod Infertil
January 2024
Center for Human Genetics, Karnataka, India.
Background: The purpose of the current study was to report a case with 45,X/46,XY/46,X,idic(Yp) mosaicism showing the male phenotype with mixed gonadal dysgenesis.
Case Presentation: A 27 year-old individual, phenotypically male, presented with azoospermia and a micropenis. Both testes were not visualized in the scrotal sac.
Isodicentric Y Chromosome with Multiple Breakpoints in the Pseudoautosomal Region 1.
Cytogenet Genome Res
December 2024
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Article Synopsis
- Isodicentric Y chromosomes are common structural variants in humans, particularly with unclear mechanisms behind those involving short arm breakpoints (idic(Yq)).
- A Japanese man with azoospermia (lack of sperm) and short stature was diagnosed with a unique karyotype featuring a mix of chromosomal abnormalities, including an ∼1.8 Mb deletion in his Y chromosome.
- The findings suggest the idic(Yq) condition arose from multiple DNA breaks in a specific region (PAR1) of the Y chromosome, and the patient's symptoms might be linked to genetic factors affecting his growth and fertility.
Elimination of the extra chromosome of Dup15q syndrome iPSCs for cellular and molecular investigation.
Eur J Cell Biol
September 2024
Center for iPS Cell Research and Application (CiRA), Kyoto University, 53 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan; Takeda-CiRA (T-CiRA) Joint Program, 2-26-1, Muraoka-Higashi, Fujisawa 251-8555, Japan; iPSC-based Drug discovery and Development Team, RIKEN BioResource Research Center, 1-7 Hikaridai, Seika-cho, Soraku-gun, Kyoto 619-0237, Japan; Medical-Risk Avoidance based on iPS Cells Team, RIKEN Center for Advanced Intelligence Project (AIP), 53 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan. Electronic address:
Chromosome 15q11.2-13.1 duplication (Dup15q) syndrome is one of the most common autism spectrum disorders (ASDs) associated with copy number variants (CNVs).
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!