A de novo pure 21q22.3 deletion in a 9-year-old boy with buried penis: a case report and literature review

Lin, Danhong; Fang, Tuanyu; Lin, Leweihua; He, Yangli; Quan, Huibiao; Yang, Jingmin; Chen, Kaining; Wei, Weiping

doi:10.21037/tp-21-377

Cited by 3 publications

(2 citation statements)

References 24 publications

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“…Moreover, these CNVs were distributed throughout the genome, with few chromosomes showing no detectable alterations, indicating robust clinical representation within our cohort. The absence of CNVs on chromosomes 3, 8, 14, 21, and Y in our study could be attributed to their low incidence rate and the association with intellectual disabilities [ 29 – 33 ]. However, due to limited cases of intellectual disabilities in our cohort, further exploration of these associations was challenging.…”

Section: Discussionmentioning

confidence: 67%

High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases

Zeng,

Ding,

Wang

et al. 2024

J Transl Med

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Background Genetic disorders often manifest as abnormal fetal or childhood development. Copy number variations (CNVs) represent a significant genetic mechanism underlying such disorders. Despite their importance, the effectiveness of clinical exome sequencing (CES) in detecting CNVs, particularly small ones, remains incompletely understood. We aimed to evaluate the detection of both large and small CNVs using CES in a substantial clinical cohort, including parent–offspring trios and proband only analysis. Methods We conducted a retrospective analysis of CES data from 2428 families, collected from 2018 to 2021. Detected CNV were categorized as large or small, and various validation techniques including chromosome microarray (CMA), Multiplex ligation-dependent probe amplification assay (MLPA), and/or PCR-based methods, were employed for cross-validation. Results Our CNV discovery pipeline identified 171 CNV events in 154 cases, resulting in an overall detection rate of 6.3%. Validation was performed on 113 CNVs from 103 cases to assess CES reliability. The overall concordance rate between CES and other validation methods was 88.49% (100/113). Specifically, CES demonstrated complete consistency in detecting large CNV. However, for small CNVs, consistency rates were 81.08% (30/37) for deletions and 73.91% (17/23) for duplications. Conclusion CES demonstrated high sensitivity and reliability in CNV detection. It emerges as an economical and dependable option for the clinical CNV detection in cases of developmental abnormalities, especially fetal structural abnormalities.

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Section: Discussionmentioning

confidence: 67%

High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases

Zeng,

Ding,

Wang

et al. 2024

J Transl Med

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“…There are few publications on PL-like MF. The first case series was described by Ko et al in 2000, and a few other authors have published cases since then [4,6,7,15]. Recently, Suh et al in 2022 described 15 cases of PL-like MF [2].…”

Section: Discussionmentioning

confidence: 99%

Pityriasis Lichenoides-Like Mycosis Fungoides: A Case Report

Park¹,

Green²,

Giansiracusa³

et al. 2023

Cureus

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A rare subtype of mycosis fungoides (MF) known as pityriasis lichenoides-like mycosis fungoides (PL-like MF) manifests as recurrent crops of erythematous scaly papules with the histological findings of MF. We report a 64-year-old male with recurrent crops of psoriasiform papules with mild scales on his trunk and extremities. Skin biopsy results were consistent with CD8+ cutaneous T-cell lymphoma (CTCL). Our patient had clinical features of pityriasis lichenoides and histological findings consistent with CD8+ MF. A differential diagnosis of PL, lymphomatoid papulosis (LyP), and PL-like MF was considered. Counseling patients with CD8+ cutaneous T-cell lymphoma can be challenging, as there is an aggressive variant named primary cutaneous aggressive epidermotropic CD8+ CTCL. However, with the ability to recognize PL-like MF, a rare indolent type of CD8+ CTCL, physicians can counsel patients appropriately.

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Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report

Liu

Wang

et al. 2022

Ital J Pediatr

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Background Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by the loss of paternally expressed genes in the human chromosome region 15q11.2-q13. It is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity. Motor milestones and language development are delayed and most patients have intellectual disability. Case presentation Here we describe a rare PWS case caused by mosaic imprinting defect in the region 15q11.2-q13 of paternal origin. The proband was a male child with a clinical presentation of global developmental delay and hypotonia with specific facial features. Karyotype of the child was noted as mosaic: 45XY,der(15)?t(15;21),-21[26]/46,XY[24]. Whole-exome sequencing (WES) identified a deletion of 22.7 Mb in size at chr15q11.2q21.1 region and a deletion of 2.1 Mb in size at chr21q22.3 region. The Methylation-specific multiplex ligation-dependent probe amplification(MS-MLPA) of the 15q11.2-q13 region showed that the loading ratio of methylated alleles was 70% and that of unmethylated alleles was 30%(50% normal), which confirmed that the loss of mosaic imprinted defects in the paternal allele led to the diagnosis of PWS. Conclusions We propose that complete clinical criteria for PWS should not be considered sensitive in diagnosing partial atypical PWS due to mosaic imprinting defects. In contrast, clinical suspicion based on less restrictive criteria followed by multiple techniques is a more powerful approach.

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A de novo pure 21q22.3 deletion in a 9-year-old boy with buried penis: a case report and literature review

Cited by 3 publications

References 24 publications

High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases

High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases

Pityriasis Lichenoides-Like Mycosis Fungoides: A Case Report

Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report

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