Glomerulopathy in patients with distal duplication of chromosome 6p

Jankauskienė, Augustina; Koczkowska, Magdalena; Bjerre, Anna; Bernaciak, Joanna; Schaefer, Franz; Lipska‐Ziętkiewicz, Beata S.

doi:10.1186/s12882-016-0246-2

Cited by 8 publications

(11 citation statements)

References 10 publications

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“…Distal 6p trisomy is very rare. Patients have variable clinical findings with duplications that usually range from 6pter to 6p21-6p25 ( 7 ). The phenotypic features that are associated with dup 6p25.2p24.2 that were present in our patient were tall stature, dysmorphia, obesity, frequent respiratory infections, foot malformations, hypoplastic left kidney, hypospadias, and urethral stenosis.…”

Section: Discussionmentioning

confidence: 99%

Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability

et al. 2017

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AimTo determine the diagnostic yield and criteria that could help to classify and interpret the copy number variations (CNVs) detected by chromosomal microarray (CMA) technique in patients with congenital and developmental abnormalities including dysmorphia, developmental delay (DD) or intellectual disability (ID), autism spectrum disorders (ASD) and congenital anomalies (CA).MethodCMA analysis was performed in 337 patients with DD/ID with or without dysmorphism, ASD, and/or CA. In 30 of 337 patients, chromosomal imbalances had previously been detected by classical cytogenetic and molecular cytogenetic methods.ResultsIn 73 of 337 patients, clinically relevant variants were detected and better characterized. Most of them were >1 Mb. Variants of unknown clinical significance (VOUS) were discovered in 35 patients. The most common VOUS size category was <300 kb (40.5%). Deletions and de novo imbalances were more frequent in pathogenic CNV than in VOUS category. CMA had a high diagnostic yield of 43/307, excluding patients previously detected by other methods.ConclusionCMA was valuable in establishing the diagnosis in a high proportion of patients. Criteria for classification and interpretation of CNVs include CNV size and type, mode of inheritance, and genotype-phenotype correlation. Agilent ISCA v2 Human Genome 8x60 K oligonucleotide microarray format proved to be reasonable resolution for clinical use, particularly in the regions that are recommended by the International Standard Cytogenomic Array (ISCA) Consortium and associated with well-established syndromes.

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Section: Discussionmentioning

confidence: 99%

Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability

et al. 2017

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“…In contrast, partial trisomy 6p is considered a clinically distinct syndrome reported in dozens of cases, most of which are associated with monosomy for segments of different chromosomes [ 4 ]. Pure duplication of distal 6p is rare with only 15 previous cases involving the duplication of 6p23-p25.3 [ 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 ] ; characteristic phenotypes generally include low birth weight, developmental delay, growth retardation, craniofacial abnormalities, cataracts, congenital heart defects, glomerulopathy, and kidney and urinary tract anomalies.…”

Section: Introductionmentioning

confidence: 99%

De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review

Syu

et al. 2022

Diagnostics

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Small supernumerary marker chromosomes (sSMCs) derived from the chromosome 6 short arm are rare and their clinical significance remains unknown. No case with sSMC(6) without centromeric DNA has been reported. Partial trisomy and tetrasomy of distal 6p is a rare but clinically distinct syndrome. We report on a de novo mosaic sSMC causing partial tetrasomy for 6p23-p25.3 in a male infant with symptoms of being small for gestational age, microcephaly, facial dysmorphism, congenital eye defects, and multi-system malformation. Conventional cytogenetic analysis revealed a karyotype of 47,XY,+mar [25]/46,XY [22]. Array comparative genomic hybridization (aCGH) revealed mosaic tetrasomy of distal 6p. This is the first case of mosaic tetrasomy 6p23-p25.3 caused by an inverted duplicated neocentric sSMC with characteristic features of trisomy distal 6p. Comparison of phenotypes in cases with trisomy and tetrasomy of 6p23-p25.3 could facilitate a genotype–phenotype correlation and identification of candidate genes contributing to their presentation. The presentation of anterior segment dysgenesis and anomaly of the renal system suggest triplosensitivity of the FOXC1 gene. In patients with microcephaly growth retardation, and malformation of the cardiac and renal systems, presentation of anterior segment dysgenesis might be indicative of chromosome 6p duplication, and aCGH evaluation should be performed for associated syndromic disease.

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“…The common features of patients with distal trisomy 6p, distal monosomy 6q, and both distal trisomy 6p and monosomy 6q are presented in Table 1 . Features associated with distal trisomy 6p more commonly include facial dysmorphisms, growth deficiency, developmental delay, intellectual disability, and congenital cardiac, renal, and ocular defects [ 2 ]. Features commonly seen in distal monosomy 6q include intellectual disability, developmental delay, facial dysmorphisms, and central nervous system abnormalities [ 9 ].…”

Section: Discussionmentioning

confidence: 99%

An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination

Peterman

Vance

Conboy

et al. 2020

Case Reports in Genetics

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We report on a 12-year-old female with both a partial duplication and deletion involving chromosome 6. The duplication involves 6p25.3p24.3 (7.585 Mb) while the deletion includes 6q27q27 (6.244 Mb). This chromosomal abnormality is also described as distal trisomy 6p and distal monosomy 6q. The patient has a Chiari II malformation, hydrocephalus, agenesis of the corpus callosum, microcephaly, bilateral renal duplicated collecting system, scoliosis, and myelomeningocele associated with a neurogenic bladder and bladder reflux. Additional features have included seizures, feeding dysfunction, failure to thrive, sleep apnea, global developmental delay, intellectual disability, and absent speech. To our knowledge, our report is just the sixth case in the literature with concomitant distal 6p duplication and distal 6q deletion. Although a majority of chromosomal duplication-deletion cases have resulted from a parental pericentric inversion, the parents of our case have normal chromosomes. This is the first reported de novo case of distal 6p duplication and distal 6q deletion. Alternate explanations for the origin of the patient’s chromosome abnormalities include parental gonadal mosaicism, nonallelic homologous recombination, or potentially intrachromosomal transposition of the telomeres of chromosome 6. Nonpaternity was considered but ruled out by whole exome sequencing analysis.

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Glomerulopathy in patients with distal duplication of chromosome 6p

Cited by 8 publications

References 10 publications

Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability

Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability

De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review

An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination

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