Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome

Abstract

The 8q21.11 microdeletion syndrome (OMIM # 614230) has been recently described and is primarily characterized by intellectual disability and facial dysmorphism. We describe here a male patient of 9 years 9 months of age with moderate intellectual disability and dysmorphic facial features. A high resolution copy number variation analysis, performed with the Affymetrix Cytogenetics Whole-Genome 2.7 M SNP array, allowed the identification of a heterozygous 7.069 Mb microdeletion at chromosome 8q21.11-q21.13. Clinical comparison of our patient with literature shows many similarities. However, the whole facial appearance of our patient, especially the elongated rather than rounded face and the absence of a wide nasal bridge and epicanthal folds, confers him a phenotype similar only to a subset, but not to the majority, of the hitherto described patients.

Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype

“…Most patients were reported to be neurologically abnormal, mainly characterized by developmental delay, intellectual disabilities, or autism spectrum disorder [26,27], contributing to 1q21.1 duplication syndrome; congenital heart defect was less commonly observed [28]. One fetus with CoA, VSD, increased spine curvature, and FGR revealed a 7. features [29,30], and congenital heart defects have also been rarely reported [31]. The fetus in our study died in utero at 34 gestational weeks, with no obvious abnormalities in the appearance of the delivered fetus.…”

“…One fetus with CoA, VSD, increased spine curvature, and FGR revealed a 7.3-Mb deletion on 8q21.11, associated with 8q21 deletion syndrome. The syndrome is mainly characterized by intellectual disability and common facial dysmorphic features [ 29 , 30 ], and congenital heart defects have also been rarely reported [ 31 ]. The fetus in our study died in utero at 34 gestational weeks, with no obvious abnormalities in the appearance of the delivered fetus.…”

8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects

“…Focusing on the facial dysmorphia, our patient shared some features, including a high forehead, underdeveloped alae, micrognathia, and low-set ears. However, he presented other distinctive dysmorphic features because he had an elongated rather than round face, as reported by Quintela et al (2015). His ears were not prominent, and he had neither a wide nasal bridge nor epicanthal folds.…”

“…De novo interstitial deletions of the 8q21.13–q21.3 chromosomal region are rare rearrangements that have been reported in only 18 cases so far (Africk, 2015 ; Belligni & Hennekam, 2010 ; Happ et al, 2016 ; Heide et al, 2017 ; McMullan et al, 2002 ; Palomares et al, 2011 ; Quintela et al, 2015 ; Vulto‐van Silfhout et al, 2013 ; Wu et al, 2020 ). Palomares et al ( 2011 ) reported the first large cohort, with eight patients, and suggested that the 8q21.11–q21.3 submicroscopic deletions represent a clinically recognizable entity, referred to as 8q21.11 microdeletion syndrome (OMIM # 614230).…”

Hyperventilation-Induced Non-epileptic Seizures in an Adolescent Boy with Pediatric Medical Traumatic Stress

“…His parents separated when he was six years of age, and he visits his father on a weekly basis. M was born with chromosome 8q21.11 microdeletion syndrome; 2,3 he has a slightly dysmorphic face, an IQ in the low average range, and attention-deficit/hyperactivity disorder (ADHD), treated with long-acting methylphenidate 30 mg a day. 2 His cognitive difficulties include a slow processing speed (percentile rank of 2) and difficulties in shortterm memory, abstract thinking, and forward-planning capabilities.…”