ArticlePloS one2013
A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs) and/or possible chromosome 5p chromothripsis.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 34 citations in OpenAlex.
- Complex chromosomal rearrangements in female carriers experiencing recurrent pregnancy loss or poor obstetric history and literature review.Journal of assisted reproduction and genetics · 2025Review
- Complex genomic rearrangements of the Y chromosome in a premature infant.Molecular cytogenetics · 2024Article
- Cri-Du-Chat Syndrome - A Rare Case Report.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2023Article
- Cognitive-Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype-Phenotype Correlationships.Genes · 2023Article
- Copy Number Variation Analysis of 5p Deletion Provides Accurate Prenatal Diagnosis and Reveals Candidate Pathogenic Genes.Frontiers in medicine · 2022Article
- Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report.European journal of medical research · 2021Article
- Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.Frontiers in genetics · 2021Article
- Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents.Molecular syndromology · 2020Article
- Genomic Earthquakes in the Human Germline and Their Ramifications.Molecular syndromology · 2020Article
- The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders.American journal of human genetics · 2019Review
- Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature.Molecular cytogenetics · 2019Article
- On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update.Frontiers in genetics · 2019Review
- Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report.BMC medical genomics · 2018Article
- Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.PLoS genetics · 2018Article
- Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with aMolecular cytogenetics · 2018Article
- A germline chromothripsis event stably segregating in 11 individuals through three generations.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients.BioMed research international · 2016Article
- 5p deletions: Current knowledge and future directions.American journal of medical genetics. Part C, Seminars in medical genetics · 2015Review
- Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome.Molecular cytogenetics · 2015Article
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9 authors at 5 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Cri-du-Chat syndrome (MIM 123450) is a chromosomal syndrome characterized by the characteristic features, including cat-like cry and chromosome 5p deletions. We report a family with five individuals showing chromosomal rearrangements involving 5p, resulting from rare maternal complex chromosomal rearrangements (CCRs), diagnosed post- and pre-natally by comprehensive molecular and cytogenetic analyses. Two probands, including a 4½-year-old brother and his 2½-year- old sister, showed no diagnostic cat cry during infancy, but presented with developmental delay, dysmorphic and autistic features. Both patients had an interstitial deletion del(5)(p13.3p15.33) spanning ≈ 26.22 Mb. The phenotypically normal mother had de novo CCRs involving 11 breakpoints and three chromosomes: ins(11;5) (q23;p14.1p15.31),ins(21;5)(q21;p13.3p14.1),ins(21;5)(q21;p15.31p15.33),inv(7)(p22q32)dn. In addition to these two children, she had three first-trimester miscarriages, two terminations due to the identification of the 5p deletion and one delivery of a phenotypically normal daughter. The unaffected daughter had the maternal ins(11;5) identified prenatally and an identical maternal allele haplotype of 5p. Array CGH did not detect any copy number changes in the mother, and revealed three interstitial deletions within 5p15.33-p13.3, in the unaffected daughter, likely products of the maternal insertions ins(21;5). Chromothripsis has been recently reported as a mechanism drives germline CCRs in pediatric patients with congenital defects. We postulate that the unique CCRs in the phenotypically normal mother could resulted from chromosome 5p chromothripsis, that further resulted in the interstitial 5p deletions in the unaffected daughter. Further high resolution sequencing based analysis is needed to determine whether chromothripsis is also present as a germline structural variation in phenotypically normal individuals in this family.
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