ArticleMolecular syndromology2017
Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review.
Article in Molecular syndromology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 4 citations in OpenAlex.
- Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2023Article
- 6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype-Phenotype Correlation.Journal of pediatric genetics · 2023Article
- Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.American journal of medical genetics. Part C, Seminars in medical genetics · 2018Article
- The Clinical Diagnostic Utility of Array CGH in Children with Syndromic Microcephaly.Annals of Indian Academy of NeurologyArticle
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
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Abstract
Proximal deletion of 6q is a relatively rare chromosomal abnormality. Reported patients have deletions of different sizes but share partial overlap and present with similar clinical features, and some of them were described prior to the introduction of chromosome microarrays. We describe a male patient with prenatal sonographic findings of nuchal edema, intrauterine growth restriction, renal pelvis dilatation, and oligohydramnios. At birth, facial dysmorphism, retro/micrognathia, a short and wide neck as well as cardiovascular and renal anomalies were noted. His clinical evolution has been marked by failure to thrive, severe developmental delay, and cognitive impairment. The diagnosis of Toriello-Carey syndrome (TCS) was based on his "gestalt." aCGH identified a de novo proximal deletion of 17 Mb in 6q (6q12q14.3). Deletion 6q13q14 seems to be responsible for the main facial features and should be considered within the differential diagnosis of TCS.
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