Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation

Katoh, Kimiko; Aiba, Kaori; Fukushi, Daisuke; Yoshimura, Junichi; Suzuki, Yasuyo; Mitsui, Jun; Morishita, Shinichi; Tuji, Shoji; Yamada, Kenichiro; Wakamatsu, Nobuaki

doi:10.1002/humu.24058

Cited by 4 publications

(1 citation statement)

References 42 publications

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“…In clinical practice, microdeletions often extend into adjacent genes that also cause intellectual disability, especially AFF2 located 550 kb downstream and IDS (mucopolysaccharidosis II) 1.5 Mb downstream. These larger deletions can present with additional clinical features related to the neighboring genes, as in proximal deletions including SOX3 [97] and distal deletions including IDS [98][99][100][101][102][103][104][105][106][107].…”

Section: Clinical Presentations Of Pathogenic Non-repeat Expansion Va...mentioning

confidence: 99%

Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes

Tekendo‐Ngongang

Grochowsky

Solomon

et al. 2021

Genes

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FMR1 (FMRP translational regulator 1) variants other than repeat expansion are known to cause disease phenotypes but can be overlooked if they are not accounted for in genetic testing strategies. We collected and reanalyzed the evidence for pathogenicity of FMR1 coding, noncoding, and copy number variants published to date. There is a spectrum of disease-causing FMR1 variation, with clinical and functional evidence supporting pathogenicity of five splicing, five missense, one in-frame deletion, one nonsense, and four frameshift variants. In addition, FMR1 deletions occur in both mosaic full mutation patients and as constitutional pathogenic alleles. De novo deletions arise not only from full mutation alleles but also alleles with normal-sized CGG repeats in several patients, suggesting that the CGG repeat region may be prone to genomic instability even in the absence of repeat expansion. We conclude that clinical tests for potentially FMR1-related indications such as intellectual disability should include methods capable of detecting small coding, noncoding, and copy number variants.

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Section: Clinical Presentations Of Pathogenic Non-repeat Expansion Va...mentioning

confidence: 99%

Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes

Tekendo‐Ngongang

Grochowsky

Solomon

et al. 2021

Genes

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Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview

Zhuang¹,

Chen

Zhang³

et al. 2022

Mol Cytogenet

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Background Partial trisomy 13q is a less common chromosomal abnormality with a great clinical variability, among them, isolated partial trisomy 13q is extremely rare. Here, we report two new unrelated cases of partial trisomy 13q in Chinese families aiming to emphasize the genotype–phenotype correlation in partial trisomy 13q. Methods Enrolled in this study were two unrelated cases of partial 13q trisomy from two families in Quanzhou region South China. Karyotpe and single-nucleotide polymorphism (SNP) array analysis were employed to identify chromosome abnormalities and copy number variants in the families. Results A 72.9-Mb duplication in 13q14.11q34 region was identified using SNP array analysis in Patient 1 with an intellectual disability, developmental delay, seizures, gastric perforation, and other congenital malformations from a family with paternal inv(13)(p12q14.1). SNP array detection in Patient 2 revealed a 92.4-Mb duplication in 13q12.11q34 region combined with an 8.4-Mb deletion in Xq27.3q28 region with intellectual disability, developmental delay, cleft palate, and duplication of the cervix and the vagina. No chromosomal abnormality was elicited from the parents of Patient 2. Conclusions In this study, we presented two new unrelated cases of partial trisomy 13q with variable features in Chinese population, which may enrich the spectrum of the phenotypes partial trisomy 13q and further confirm the genotype–phenotype correlation.

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Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype

Zhou¹,

Zhang

Zhu

et al. 2022

Mol Cytogenet

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Background Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. CNVs identified in prenatal cases need careful considerations and correct interpretation if those are harmless or harmful variants from the norm. Case presentation A 28-year-old, gravida 1, para 0, woman underwent amniocentesis at 17 weeks of gestation because the noninvasive prenatal testing (NIPT) results revealed a 9.8 Mb deletion from Xq24 to Xq25. GTG-banding karyotype analysis was performed on cultured amniocytes. Chromosomal microarray analysis (CMA) on uncultured amniocytes was performed. Results Chromosomal GTG-banding of the cultured amniocytes revealed a karyotype of 46,XX. CMA detected a 9.5-Mb chromosomal deletion in the region of Xq24q25 (arr[GRCh37] Xq24q25(118,975,436_128,444,692) × 1). Conclusion The present report highlights that an integration of prenatal ultrasound, NIPT, karyotype analysis, CMA and genetic counseling is helpful for the prenatal diagnosis of chromosomal deletions/duplications.

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Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation

Cited by 4 publications

References 42 publications

Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes

Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes

Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview

Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype

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