Egyptian female with 8q22.2q22.3 microdeletion syndrome

Sharaf-Eldin, Wessam E.; Rafat, Karima; ElBagoury, Nagham; Zaki, Maha S.; Essawi, Mona

doi:10.1016/j.humgen.2022.201028

Cited by 1 publication

(3 citation statements)

References 18 publications

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“…The reported 10-year-old girl (Patient 8) presented with a phenotype indicative of the 8q22.2q22.3 microdeletion, including intellectual disability, epilepsy, short stature, microcephaly, specific facial features, hearing loss, and congenital heart disease [ 4 ]. The youngest patient, a 2-year-old girl (Patient 9) exhibiting most of the characteristic features of 8q22.2q22.3 microdeletion, was recently reported by Sharaf-Eldin et al [ 5 ]. The deletion in 8q22.2, 1.027 Mb in size, was detected in a patient with isolated occult subtotal cleft of the secondary palate and no specific anomalies for the 8q22.2q22.3 microdeletion syndrome; this deletion was therefore not included for further analysis [ 6 ].…”

Section: Discussionmentioning

confidence: 97%

“…Coordinates of deletions are remapped to GRCh38 (hg38) assembly. Grey vertical bars in left and right show the chromosomal regions possibly responsible for periorbital features and seizures, respectively [ 1 , 2 , 3 , 4 , 5 ].…”

Section: Figurementioning

confidence: 99%

“…To date, nine patients with an interstitial 8q22.2q22.3 microdeletion have been described in the literature [ 1 , 2 , 3 , 4 , 5 ]. The age of these patients ranged from early childhood to middle adulthood.…”

Section: Introductionmentioning

confidence: 99%

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A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects

Kalinauskiene,

Brazdziunaite,

Burokiene

et al. 2023

Medicina

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Background and Objectives: Only nine patients with interstitial de novo 8q22.2q22.3 microdeletions have been reported to date. The objective of this report is to present clinical features of a new patient with an 8q22.2q22.3 microdeletion, to compare her phenotype to other previously reported patients, and to further expand the phenotype associated with this microdeletion. Materials and Methods: We describe an 8½-year-old girl with developmental delay, congenital hip dysplasia, a bilateral foot deformity, bilateral congenital radioulnar synostosis, a congenital heart defect, and minor facial anomalies. Results: Chromosomal microarray analysis revealed a 4.9 Mb deletion in the 8q22.2q22.3 region. De novo origin was confirmed by real-time PCR analysis. Conclusions: Microdeletions in the 8q22.2q22.3 region are characterized by moderate to severe intellectual disability, seizures, distinct facial features and skeletal abnormalities. In addition to one already reported individual with an 8q22.2q22.3 microdeletion and unilateral radioulnar synostosis, this report of a child with bilateral radioulnar synostosis provides additional evidence, that radioulnar synostosis is not an incidental finding in individuals with an 8q22.2q22.3 microdeletion. Additional patients with similar microdeletions would be of a great importance for more accurate phenotypic description and further analysis of the genotypic-phenotypic relationship.

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Section: Discussionmentioning

confidence: 97%