An Interstitial 4q31.21q31.22 Microdeletion Associated with Developmental Delay: Case Report and Literature Review

Vlaikou, Angeliki Maria; Manolakos, Emmanouil; Noutsopoulos, Dimitrios; Μαρκόπουλος, Γεώργιος; Liehr, Thomas; Vetro, Annalisa; Ziegler, Monika; Weise, Anja; Kreskowski, Katharina; Papoulidis, Ioannis; Thomaidis, Loretta; Syrrou, Maria

doi:10.1159/000361001

Cited by 9 publications

(7 citation statements)

References 70 publications

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“…In the existing literature, more than 100 cases have been previously reported on 4q deletions [4,[8][9][10][11]. However, no cases had interstitial deletions sharing the same deleted segment as the present case.…”

Section: Methylsterol Monooxygenase 1 (Msmo1) [Mim 607545]mentioning

confidence: 47%

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Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array

et al. 2020

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Background Although Chromosomal microarray analysis (CMA) is a powerful diagnostic technology for detecting chromosomal copy number variants (CNVs), it detects numerous variants of unknown significance (VUSs), which poses a great challenge for genetic counselling. Terminal deletion of the long arm of chromosome 4 is a rare genetic aberration. Few cases of interstitial deletion sharing the common deleted segment have been reported. Case presentation A male foetus with a 7.22-Mb deletion at chromosome 4q32.2q32.3 was found in the proband. The paternal genotype was normal. His asymptomatic mother with a normal phenotype and intelligence was found to carry the same deletion at the long arm of chromosome 4. The clinical significance of arr[GRCh37] 4q32.2q32.3(162858958_170081268)×1 remains uncertain. To the best of our knowledge, this is the first case report on a VUS of 4q32 deletion and the second report of a heterochromatic CNV involving part of the long arm of chromosome 4 in a phenotypically normal mother and child. The identification of this case contributes to additional understanding of deletion at 4q32.2q32.3. This report may provide a reference for prenatal diagnosis and genetic counselling in patients who have genotypes of similar cytogenetic abnormalities. Conclusions The novel 7.22-Mb deletion at chromosome 4q32.2q32.3 (162858958-170081268) is a VUS. The foetus inherited this VUS from a phenotypically normal mother.

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Section: Methylsterol Monooxygenase 1 (Msmo1) [Mim 607545]mentioning

confidence: 47%

“…In 1967, Ockey et al first reported a deletion of the long arm of chromosome 4 in a child with limb abnormalities [7]. Since then, hundreds of patients with chromosome 4qsyndrome have been reported [4,[8][9][10][11]. The severity of the phenotype is correlated with the size of the deleted ranges (larger or smaller).…”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array

et al. 2020

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“…The present literature refers to several cases reporting 4q deletions, mostly terminal 4q deletion [1,[17][18][19][20]. There are also a few cases of interstitial deletions that have been reported.…”

Section: Discussion/conclusionmentioning

confidence: 99%

Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication

Libotte¹,

Fabiani²,

Margiotti³

et al. 2021

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The 4q deletion syndrome is a well-known rare genetic condition caused by partial, terminal, or interstitial deletion in the long arm (q) of chromosome 4. The phenotype of this syndrome shows a broad spectrum of clinical manifestations due to the great variability in the size and location of the deletion. In the literature, the mostly terminal deletions of chromosome 4q and the relative phenotypes are described, while the interstitial deletions of the long arm of chromosome 4 are rarely cited. Here, we report on a female fetus presenting no abnormal ultrasound evidence but with multiple chromosome aberrations. Comparative genomic hybridization (aCGH) revealed an interstitial 10.09 Mb deletion at the chromosome at the region of 4q28, arr[hg19] 4q28.1q28.3 (124068262_134158728)x1 combined with a 386.81 Kb microduplication at chromosome 15q11.1, arr[hg19] 15.11 (20249932_20636742)x3. At birth, and after 11 months, the baby was confirmed healthy and normal. The identification of this case allows for a deeper understanding of 4q syndrome and provides an explanation for the wide genetic/phenotypic spectrum of this pathology. This report can provide a reference for prenatal diagnosis and genetic counseling in patients who have similar cytogenetic abnormalities, and underlines the importance of reporting unusual variant chromosomes for diagnostic genetic purposes.

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“… 2 5 Another case report presented various clinical features of hypertonia, respiratory distress syndrome, and developmental delay with the smallest deletion (4q31.2-31.22, 1 Mb) described until today. 6 …”

mentioning

confidence: 99%

“…This finding is also in line with suggestion that 4q31.2-31.22 region (chr4:145963820-147044764) is essential for clinical features in the 4q deletion syndrome. 6 …”

mentioning

confidence: 99%

Clinical and Molecular Delineation of a NovelDe Novo4q28.3-31.21 Interstitial Deletion in a Patient with Developmental Delay

et al. 2015

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An Interstitial 4q31.21q31.22 Microdeletion Associated with Developmental Delay: Case Report and Literature Review

Cited by 9 publications

References 70 publications

Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array

Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array

Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication

Clinical and Molecular Delineation of a NovelDe Novo4q28.3-31.21 Interstitial Deletion in a Patient with Developmental Delay

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