Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH

Manolakos, Emmanouil; Kefalas, Konstantinos; Vetro, Annalisa; Oikonomidou, Eirini; Psara, Natasa; Siomou, Elisa; Papageorgiou, Elena; Sevastopoulou, Eirini; Konstantinidou, Anastasia; Vrachnis, Nikolaos; Thomaidis, Loretta; Zuffardi, Orsetta; Papoulidis, Ioannis

doi:10.1186/1755-8166-6-47

Cited by 15 publications

(12 citation statements)

References 13 publications

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“…Essential features of this syndrome include mild craniofacial and digital dysmorphism, developmental delay, growth retardation, skeletal and cardiac anomalies, and autism spectrum disorder [ 2 ]. A broad spectrum of clinical manifestations has been observed partly due to the variability in the extent of the deletions and the possible additional contribution of other genetic rearrangements, such as unbalanced translocations [ 3 ]. Many reports of 4q- cases associated with large deletions could be detected by conventional chromosome analysis; however, in recent years the reports of submicroscopic chromosomal aberrations associated with 4q- phenotype increased as a result of the widespread diagnostic use of array comparative genomic hybridization (a-CGH) [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

Deletion of 4q28.3-31.23 in the background of multiple malformations with pulmonary hypertension

et al. 2014

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The 4q deletion syndrome shows a broad spectrum of clinical manifestations consisting of key features comprising growth failure, developmental delay, craniofacial dysmorphism, digital anomalies, and cardiac and skeletal defects. We have identified a de novo interstitial distal deletion in a 9 month-old girl with growth failure, developmental delay, ventricular septum defect in the subaortic region, patent foramen ovale and patent ductus arteriosus, vascular malformation of the lung, dysgenesis of the corpus callosum and craniofacial dysmorphism using array-comparative genomic hybridization. This de novo deletion is located at 4q28.3-31.23 (136,127,048 - 150,690,325), its size is 14.56 Mb, and contains 8 relevant genes (PCDH18, SETD7, ELMOD2, IL15, GAB1, HHIP, SMAD1, NR3C2) with possible contributions to the phenotype. Among other functions, a role in lung morphogenesis and tubulogenesis can be attributed to the deleted genes in our patient, which may explain the unique feature of vascular malformation of the lung leading to pulmonary hypertension. With the detailed molecular characterization of our case with 4q- syndrome we hope to contribute to the elucidation of the genetic spectrum of this disorder.

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Section: Introductionmentioning

confidence: 99%

Deletion of 4q28.3-31.23 in the background of multiple malformations with pulmonary hypertension

et al. 2014

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“…To the best of our knowledge, molecular karyotyping has only previously been applied twice in prenatal cases with chromosome 4 long arm distal deletions that encompassed the 4q35 region. Manolakos et al [] reported two prenatally detected male fetuses with de novo teminal deletions on the long arm of one of the chromosome 4s. In both cases, the karyotypes were described as 46,XY,del(4)(q35.1).…”

Section: Discussionmentioning

confidence: 99%

“…Chromosome 4 long arm deletion is a rare chromosomal deletion syndrome with a wide range of phenotypic findings, and the severity of the malformations depends on both the size of the deletion and the location of the breakpoint [Xu et al, ]. Common phenotypic characteristics of large chromosome 4 long arm deletions are mild dysmorphic features, craniofacial, digital, skeletal, gastrointestinal, cardiac, and urogenital anomalies, as well as developmental delay [Manolakos et al, ]. Small deletions in the distal portion of chromosome 4's long arm do not seem to result in gross congenital malformations.…”

Section: Introductionmentioning

confidence: 99%

A familial interstitial 4q35 deletion with no discernible clinical effects

Yakut

Clarck

Sanhal

et al. 2015

American J of Med Genetics Pt A

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Small deletions on the long arm of distal chromosome 4 do not appear to result in gross congenital malformations, with the most frequently reported clinical findings including mild to moderate intellectual disability, learning disabilities and minor dysmorphic features. Here we report on a cytogenetically detectable familial interstitial chromosome 4 long arm deletion with no discernible phenotypic effects in a mother and her two daughters. The karyotypes of the mother and her two daughters were: 46,XX,del(4)(q35.1q35.2). Based on the results of FISH analyses using whole chromosome specific and subtelomeric probes, the karyotype was designated as: 46,XX,del(4)(q35.1q35.2). ish del(4)(q35-qter)(WCP4+, 36P21+, dJ963K6-). Array-CGH analysis showed an interstitial deletion encompassing 5.75 Mb in the 4q35.1-q35.2 genomic region (chr4:184,717,878-190,469,337; hg19). This is the first report on a cytogenetically detectable familial interstitial chromosome 4 long arm deletion in which there are no discernible phenotypic effects. Both our findings and a review of the literature suggest that more detailed molecular analyses are needed in cases with distal chromosome 4 long arm deletions especially those with breakpoints in the 4q35 region to establish a more precise genotype-phenotype correlation.

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“…according to standard procedures. CMA was carried out using oligonucleotide aCGH platforms (Agilent technologies, Santa Clara, CA) using an 80 Kb resolution array (kit 60k) as described elsewhere [6]. The reference DNA was of male gender.…”

Section: Methodsmentioning

confidence: 99%

Identification of a Small Supernumerary Marker Chromosome Involving 11p14.1q12.1 in a Prenatal Case: Clinical and Molecular Characterization

Kontodiou¹,

Paspaliaris²,

Dagklis³

et al. 2018

obm genet

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Background: The characterization of small supernumerary marker chromosomes (sSMCs) by the use of banding cytogenetic techniques exclusively is almost impossible. These structurally abnormal chromosomes are characterized by multicolor fluorescence in situ hybridization approaches which are effective but expensive and time-consuming. Recently, a bioinformatic application called the Chromosomal Microarray Analysis (CMA) has resulted in the improvement of the characterization of sSMCs. Methods: CMA was used for the identification of a sSMC in this study. Results: In this case report, a fetus with a sSMC derived from chromosome 11 is described. Conclusions: CMA is suited for sSMC characterization of prenatal cases along with molecular cytogenetic techniques like FISH. The obtained molecular data can be directly used to compare the actual case with data from the literature available on http://ssmctl.com/sSMC.html.

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Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH

Cited by 15 publications

References 13 publications

Deletion of 4q28.3-31.23 in the background of multiple malformations with pulmonary hypertension

Deletion of 4q28.3-31.23 in the background of multiple malformations with pulmonary hypertension

A familial interstitial 4q35 deletion with no discernible clinical effects

Identification of a Small Supernumerary Marker Chromosome Involving 11p14.1q12.1 in a Prenatal Case: Clinical and Molecular Characterization

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