Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2017 Dec;9(1):15-21.
doi: 10.1159/000484427. Epub 2017 Nov 29.

Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review

Affiliations

Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review

Sofía Catena et al. Mol Syndromol. 2017 Dec.

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.

PubMed Disclaimer

Figures

Fig. 1.
Fig. 1.
Evolving facial phenotype. Profile and frontal views of the patient. A, E At birth. B, F 6 months old. C, G 14 months old. D, H 9 years old. Note the blepharophimosis, epicanthal fold and telecanthus, medially flared eyebrows, low-set posteriorly rotated ears, long philtrum, full cheeks, microretrognathia, and a short, wide neck.
Fig. 2.
Fig. 2.
Schematic diagram of the 6q arm. Our patient's deletion (marked in red) and previously reported similar deletions with cytogenomic data within the 6q12q14.3 region are depicted (Figure prepared using Affymetrix® Chromosome Analysis Suite 3.1).

Similar articles

Cited by

References

    1. Ahmed ZM, Morell RJ, Riazuddin S, Gropman A, Shaukat S, et al. Mutations of MYO6 are associated with recessive deafness, DFNB37. Am J Hum Genet. 2003;72:1315–1322. - PMC - PubMed
    1. 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
    1. Czarny-Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perälä M, et al. A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. Am J Hum Genet. 2001;69:969–980. - PMC - PubMed
    1. 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
    1. 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