Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review
- PMID: 29456478
- PMCID: PMC5803698
- DOI: 10.1159/000484427
Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review
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.
Keywords: Deletion of 6q; Facial dysmorphism; Toriello-Carey syndrome.
Figures


Similar articles
-
A Chinese patient with Toriello-Carey syndrome and an interstitial deletion of 3q.Am J Med Genet A. 2017 Mar;173(3):721-726. doi: 10.1002/ajmg.a.38009. Epub 2016 Oct 17. Am J Med Genet A. 2017. PMID: 27748028 Review.
-
De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report.BMC Med Genet. 2017 Oct 23;18(1):118. doi: 10.1186/s12881-017-0482-8. BMC Med Genet. 2017. PMID: 29061174 Free PMC article.
-
Prenatal ultrasound diagnosis of Toriello-Carey syndrome.Prenat Diagn. 2002 Dec;22(13):1185-7. doi: 10.1002/pd.488. Prenat Diagn. 2002. PMID: 12478630
-
Toriello-Carey syndrome: evidence for X-linked inheritance.Am J Med Genet. 1996 Nov 11;65(4):291-4. doi: 10.1002/(SICI)1096-8628(19961111)65:4<291::AID-AJMG9>3.0.CO;2-S. Am J Med Genet. 1996. PMID: 8923938
-
De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.Eur J Med Genet. 2012 Aug-Sep;55(8-9):490-7. doi: 10.1016/j.ejmg.2012.03.003. Epub 2012 Apr 12. Eur J Med Genet. 2012. PMID: 22561202 Review.
Cited by
-
The Clinical Diagnostic Utility of Array CGH in Children with Syndromic Microcephaly.Ann Indian Acad Neurol. 2022 Nov-Dec;25(6):1067-1074. doi: 10.4103/aian.aian_202_22. Epub 2022 Nov 17. Ann Indian Acad Neurol. 2022. PMID: 36911451 Free PMC article.
-
6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype-Phenotype Correlation.J Pediatr Genet. 2021 Jan 6;12(2):141-143. doi: 10.1055/s-0040-1721739. eCollection 2023 Jun. J Pediatr Genet. 2021. PMID: 37090827 Free PMC article.
-
Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients.J Bone Miner Res. 2023 Jun;38(6):896-906. doi: 10.1002/jbmr.4801. Epub 2023 Apr 19. J Bone Miner Res. 2023. PMID: 37076969 Free PMC article.
-
Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):175-186. doi: 10.1002/ajmg.c.31622. Am J Med Genet C Semin Med Genet. 2018. PMID: 30182442 Free PMC article.
References
-
- Becker K, Di Donato N, Holder-Espinasse M, Andrieux J, Cuisset JM, et al. De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature. Eur J Med Genet. 2012;55:490–497. - PubMed
-
- de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012;367:1921–1929. - PubMed
-
- Drago A, Alboni S, Brunello N, De Ronchi D, Serretti A. HTR1B as a risk profile maker in psychiatric disorders: a review through motivation and memory. Eur J Clin Pharmacol. 2010;66:5–27. - PubMed
LinkOut - more resources
Full Text Sources
Other Literature Sources
Miscellaneous