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.

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.

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).