2012
DOI: 10.1002/ajmg.a.35654
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1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review

Abstract: We report on a 9-year-old girl with subtelomeric 20p microdeletion. She was referred for genetic counseling because of learning difficulties/school problems. During the evaluation short stature, hypoplastic fingernails, submucous cleft palate with cleft uvula, flat feet, and frequent upper respiratory infections, as well as the large fontanelle after birth were observed. No facial dysmorphic features specific for chromosomal aberrations were present. The diagnosis of deletion of 20p13 was established by MLPA, … Show more

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Cited by 8 publications
(8 citation statements)
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“…In addition to this case representing a unique mechanism of mosaicism, it adds to the knowledge of 20pter deletions. There have been four well‐described patients with de novo deletions identified on CMA that are similar to the one identified here [McGill et al, ; Moutton et al, ; Jezela‐Stanek et al, ] (see Fig. ).…”
Section: Discussionsupporting
confidence: 75%
See 1 more Smart Citation
“…In addition to this case representing a unique mechanism of mosaicism, it adds to the knowledge of 20pter deletions. There have been four well‐described patients with de novo deletions identified on CMA that are similar to the one identified here [McGill et al, ; Moutton et al, ; Jezela‐Stanek et al, ] (see Fig. ).…”
Section: Discussionsupporting
confidence: 75%
“…These individuals present with seizures, minor dysmorphism, developmental delay, and hypotonia [Conlin et al, ; Garcia‐Cruz et al, ]. Recently, four patients with terminal deletions of 20p identified by CMA that did not include JAG1 were reported [McGill et al, ; Moutton et al, ; Jezela‐Stanek et al, ]. These deletions appear to result in a variable phenotype that includes intellectual disability, epilepsy, and dysmorphic ears.…”
Section: Introductionmentioning
confidence: 99%
“…There are reports of individuals with deletion at 20p13 [ 22 24 ], we found that the similarly clinical features of these patients are developmental delay and intellectual disability. Patient 2 and 3 with 0.25 Mb (chr20: 121521–373182) deletion of the 20p13, at this segmental deletion contain 10 Refseq genes, not found OMIM gene associated with phenotype, of which two candidate gene ( SOX12 and NRSN2 ) was identified as nervous system expressing genes that may be associated with developmental delay [ 24 ].…”
Section: Discussionsupporting
confidence: 61%
“…To date, only a few cases of 20p13 microdeletion have been reported, and most involved de novo events like our patient (An et al, ). To elucidate the typical features of 20p13 microdeletion, we further reviewed these previously reported cases and found that motor delay (90%) was the most common manifestation, followed by language delay (60%), abnormal digits (60%), mental retardation (50%), large fontanelle (50%), EEG abnormalities (50%), and seizure (40%) (Table ) (An et al, ; Baker et al, ; Jezela‐Stanek et al, ; McGill et al, ; Moutton et al, ). Last but not least, facial dysmorphism was identified as a crucial presentation even though its occurrence varied from 30% to 70% and depended on the involved facial sites.…”
Section: Discussionmentioning
confidence: 99%