We report on mosaic 46,XY/46,XY,del(5)(p15) cri du chat syndrome. The clinical findings are compared with those compiled from a literature survey. A phoniatric evaluation was performed and compared with that of a cri du chat patient without mosaicism previously observed by the authors.
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http://dx.doi.org/10.1002/ajmg.1320390405 | DOI Listing |
medRxiv
February 2025
Department of Computer Science & Engineering, UC San Diego, La Jolla, California, USA.
The whole genome karyotype refers to the sequence of large chromosomal segments that make up an individual's genotype. karyotype analysis, which includes descriptions of aneuploidies and other rearrangements is crucial for understanding genetic risk factors, for diagnosis, treatment decisions, and genetic counseling linked to constitutional disorders. The current karyotyping standard is based on microscopic examination of chromosomes, a complex process that requires high expertise and offers Mb scale resolution.
View Article and Find Full Text PDFAdv Sci (Weinh)
February 2025
Basic and Translational Medicine Center, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100070, China.
The Cri du Chat Syndrome (CdCS), a devastating genetic disorder caused by a deletion on chromosome 5p, faces challenges in finding effective treatments and accurate animal models. Using CRISPR-Cas9, a novel CdCS rat model with a 2q22 deletion is developed, mirroring a common genetic alteration in CdCS patients. This model exhibits pronounced deficits in social behavior, cognition, and anxiety, accompanied by neuronal abnormalities and immune dysregulation in key brain regions such as the hippocampus and medial prefrontal cortex (mPFC).
View Article and Find Full Text PDFHeliyon
February 2025
Department of Pediatric General Surgery, Guangdong Women and Children Hospital, Guangzhou, 511442, China.
Cri-du-chat syndrome (CDC, OMIM 123450) is a rare chromosomal syndrome that results from partial deletions on the short arm of chromosome 5, known as 5p minus. Substantial clinical and genetic heterogeneity were observed in CDC patients. Large efforts have been dedicated to correlating the deleted regions on 5p arm with observed symptoms in CDC patients.
View Article and Find Full Text PDFCytogenet Genome Res
January 2025
Division of Neonatology, Department of Child Health and Diseases, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Introduction: Congenital cardiac defects are defined in cases with the deletion of the short arm of chromosome 5 and the duplication of the long arm of chromosome 4. Septal defects and patent ductus arteriosus are among the most common defects reported in the literature.
Case Presentation: We reported on a case with a complex congenital cardiac defect, dysmorphic facial features, cat-like cry, hypotonia, hyporeflexia, weak swallowing and sucking, limb anomalies, and bilateral undescended testicles.
Children (Basel)
December 2024
Department of Speech Therapy, School of Health Sciences, University of Ioannina, 45500 Ioannina, Greece.
A specific deletion on the short arm of chromosome 5 (5p) is the hallmark of the rare genetic syndrome called Cri du Chat Syndrome (CdCS). It causes severe difficulty with swallowing, speech, motor skills, and cognitive deficiencies. These arise from characteristic laryngeal abnormalities and oral-motor dysfunctions.
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