Rare de novo inversion-duplication case with pure 3qter duplication syndrome including an overlap of the dup(3q) critical region: A case report

Imataka, George; Watabe, Yoshiyuki; Kajitani, Sayuri; Watanabe, Shun; Ichikawa, Junko; Drago, Fabrizio; Suzumura, Hiroshi; Yoshihara, Shigemi

doi:10.3892/etm.2017.4416

Cited by 5 publications

(7 citation statements)

References 8 publications

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“…The 3q duplication [dup(3q)] syndrome is rare, usually diagnosed after birth (47,48), and is characterised by anomalies in the limbs and possible association with internal malformations, growth de ciency, dysmorphic face, and cognitive de cits (49). Pasińska et al (50) reported a prenatal diagnosis of 3q duplication syndrome in a foetus with enlarged skin oedema up to the sacral and pericranial regions with a NT of 8 mm.…”

Section: Discussionmentioning

confidence: 99%

Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by Cell-Free foetal DNA (cffDNA) testing: A case report

Ali¹,

Mateu‐Brull

Balaguer

et al. 2021

Preprint

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BackgroundSince 2011, screening maternal blood for cell-free foetal DNA (cffDNA) fragments has offered a robust clinical tool to classify pregnancy as low or high-risk for Down, Edwards, and Patau syndromes. With recent advances in molecular biology and improvements in data analysis algorithms, the screening’s scope of analysis continues to expand. Indeed, screening now encompassess additional conditions, including aneuploidies for sex chromosomes, microdeletions and microduplications, rare autosomal trisomies, and, more recently, segmental deletions and duplications called copy number variations (CNVs). Yet, the ability to detect CNVs creates a new challenge for cffDNA analysis in couples in which one member carries a structural rearrangement such as a translocation or inversion.Case presentationWe report a segmental duplication of the long arm of chromosome 3 and a segmental deletion of the short arm of chromosome 5 detected by cffDNA analysis in a 25-year-old pregnant woman. G-band karyotyping in amniotic fluid only detected an abnormality in chromosome 5. Next-generation sequencing in amniocytes confirmed both abnormalities and identified breakpoints in 3q26.32q29 and 5p13.3p15. The foetus died at 21 weeks of gestation due to multiple abnormalities, and later G-band karyotyping in the parents revealed that the father was a carrier of a balanced reciprocal translocation [46,XY,t(3;5)(q26.2;p13)]. Maternal karyotype appeared normal.ConclusionThis case provides evidence that extended cffDNA can detect, in addition to aneuploidies for whole chromosomes, large segmental aneuploidies. In some cases, this may indicate the presence of chromosomal rearrangements in a parent. Such abnormalities are outside the scope of standard cffDNA analysis targeting chromosomes 13, 18, 21, X, and Y, potentially leading to undiagnosed congenital conditions.

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Section: Discussionmentioning

confidence: 99%

Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by Cell-Free foetal DNA (cffDNA) testing: A case report

Ali¹,

Mateu‐Brull

Balaguer

et al. 2021

Preprint

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“…Duplication syndrome involving a large part of chromosome 3 with bands 3q21-qter and 3q25-qter was characterised by Kondo et al (1979), Garcia-Esquivel et al (1987) and Montero et al (1988) [4, 6, 7]. It is a rare genetic syndrome in which many defects are observed, usually diagnosed after birth [7, 8]. The critical region responsible for the typical phenotype of the dup(3q) syndrome has been mapped at the regions 3q26.3–q27.7 [9, 10].…”

Section: Discussionmentioning

confidence: 99%

“…The phenotypic discrepancy between the patients can be explained by variations of the number of active genes present in chromosomal fragments of different sizes [3, 9, 11]. Numerous developmental defects are the cause of short survival, and according to data from the literature, almost 40% of children with this syndrome die during the first year of life [5, 8, 11].…”

Section: Discussionmentioning

confidence: 99%

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Prenatal identification of partial 3q duplication syndrome

et al. 2019

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Background The 3q duplication syndrome is a result of duplication of a large fragment of the long arm of chromosome 3, mainly 3q21-qter, and in most cases it is diagnosed only after birth. The phenotypic consequences resulting from genetic imbalance are an important source of information for genetic counselling, especially in prenatal diagnostics. However, in most cases it is impossible to define them precisely because the final clinical presentation is a result of an overlap, usually due to different sizes of deletions and/or duplications not only chromosome 3 but also of translocation partner chromosome. In this article, we present a prenatal diagnosis of the 3q duplication syndrome in a foetus, arising from a balanced insertion ins (7,3)(q21.2;q12.3q29) carried by the mother. Case presentation The article presents a case of a 29-year-old woman referred to the Genetic Outpatient Clinic for consultation in the 12th week of her fifth pregnancy with a diagnosis of generalised hydrops foetalis. The analysis of karyotype using GTG technique and FISH allowed diagnosis of a balanced aberration in the mother, and determined the type of chromosomal rearrangement, which allowed the identification of the origin of the additional genetic material in the foetus and the previous malformed child of the same couple. The use of molecular karyotyping techniques (FISH and aCGH) allowed a precise determination of the size of the imbalanced fragments in the affected siblings. Conclusions The aCGH technique is particularly valuable for the diagnostics of submicroscopic deletions and duplications, if no imbalanced chromosomal aberrations are detected by routine cytogenetic tests. It is also a valuable technique for identifying and fully characterizing genetic material of unknown origin, which can’t be identified using routine cytogenetic techniqes. However, it does not allow identification of balanced aberrations in carriers.

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“…Region of affected chromosome q25→q29 q21→q27 q23→q27 q21→q26 q25→q28 q25→ q26. 3,7 . In our patient anterior and posterior segment dysgenesis, thin sclera and iris dysgenesis were detected besides the previously identified features ( Table I).…”

Section: Discussionmentioning

confidence: 99%

A rare chromosomal disorder in a newborn: Trisomy 3q

et al. 2019

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Trisomy 3q is a rare chromosomal disorder that leads to multiple congenital abnormalities. We hereby present a patient with chromosomal karyotype 46, XY, dup (3)(q23-29), which can be classified as pure 3q duplication and has thin sclera and iris dysgenesis, anterior and posterior segment dysgenesis besides the previously identified specific facial features. To the best of our knowledge only 12 cases have been reported with pure duplication in the literature. Our case is the 13 th one reported and has noval findings concerning eye involvement. The ocular manifestations of the 3q duplication syndrome provide additional evidence of the involvement of genes which are responsible for eye development in this chromosomal region.

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Rare de novo inversion-duplication case with pure 3qter duplication syndrome including an overlap of the dup(3q) critical region: A case report

Cited by 5 publications

References 8 publications

Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by Cell-Free foetal DNA (cffDNA) testing: A case report

Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by Cell-Free foetal DNA (cffDNA) testing: A case report

Prenatal identification of partial 3q duplication syndrome

A rare chromosomal disorder in a newborn: Trisomy 3q

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