Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3)

Kurosawa, Kenji; Tanoshima-Takei, Miki; Yamamoto, Toshiyuki; Ishikawa, Hiroshi; Masuno, Mitsuo; Tanaka, Yukichi; Yamanaka, Michiko

doi:10.1111/j.1741-4520.2011.00326.x

Cited by 19 publications

(15 citation statements)

References 25 publications

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“…Very few chromosomal conditions have been reported in human cases of sirenomelia. Kurosawa et al () found a de novo balanced 46,X,t(X;16)(p11.23;p12.3) translocation. Gabriele and Gianpaola () described a triploidy mosaic sirenomelic fetus (69,XXX/46,XX) after karyotyping the chorionic villi.…”

Section: Sirenomelia In Chromosomal and Monogenetic Conditionsmentioning

confidence: 99%

Sirenomelia: A Multi‐systemic Polytopic Field Defect with Ongoing Controversies

Kim

Morava

Klein

et al. 2017

Birth Defects Research

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The most impressive phenotypic appearance of sirenomelia is the presence of a 1808-rotated, axially positioned, single lower limb. Associated gastrointestinal and genitourinary anomalies are almost always present. This rare anomaly is still the subject of ongoing controversies concerning its nosology, pathogenesis, and possible genetic etiology. Sirenomelia can be part of a syndromic continuum, overlapping with other complex conditions including caudal dysgenesis and VATER/VACTERL/VACTERL-H associations, which could all be part of a heterogeneous spectrum, and originate from an early defect in blastogenesis. It is imaginable that different "primary field defects," whether or not genetically based, induce a spectrum of caudal malformations. In the current study, we review the contemporary hypotheses and conceptual approaches regarding the etiology and pathogenesis of sirenomelia, especially in the context of concomitant conditions. To expand on the latter, we included the external and internal dysmorphology of one third trimester sirenomelic fetus from our anatomical museum collection, in which multiple concomitant but discordant anomalies were observed compared with classic sirenomelia, and was diagnosed as VACTERL-H association with sirenomelia. Key words: blastogenesis; caudal dysgenesis; mermaid syndrome; anatomical museum; sirenomelia; teratology; VACTERL; VACTERL-H; VATER IntroductionThe most obvious phenotypic characteristic in sirenomelia (also called: symmelia or mermaid syndrome) is the single axially positioned lower limb. However, sirenomelia can be seen as a (lethal) multi-system condition based on a polytopic field defect with a wide phenotypical variability and frequently observed co-occurring with musculoskeletal, central nervous system, cardiopulmonary and other visceral anomalies, in addition to the almost always present gastrointestinal and genitourinary anomalies (reviewed by Gabriele and Gianpaolo, 2013). Sirenomelia is still the subject of debate, due to its ongoing controversies regarding its etiopathogenesis. Sirenomelia shows a heterogeneous phenotypic variability and overlap with caudal regression syndrome/sacro-coccygeal dysgenesis (Duhamel, 1961;Stocker and Heifetz, 1987;Adra et al., 1994), small pelvic outlet syndrome (Currarino and Weinberg, 1991), VATER/ VACTERL (Young et al., 1986;Sch€ uler and Salzano, 1994;Jain et al., 2002;Moosa et al., 2012), and VACTERL-H associations (Onyeije et al., 1998). There have been several attempts to classify these receptacles of caudal malformations, unfortunately without satisfying results. Clearly, diagnostic overlap exists between these conditions and the interpretation of their etiopathogenetic origin.The purpose of this study is to give an overview of multiple facets of this dysmorphological puzzle and review what is known about the co-occurrence of sirenomelia and other birth defects, in particular those assigned to the VACTERL(-H) spectrum. The existing literature on these conditions is supplemented by one additional case of sirenomelia with ...

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Section: Sirenomelia In Chromosomal and Monogenetic Conditionsmentioning

confidence: 99%

Sirenomelia: A Multi‐systemic Polytopic Field Defect with Ongoing Controversies

Kim

Morava

Klein

et al. 2017

Birth Defects Research

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“…Cytogenetic studies in sirenomelia cases did not show any numerical or structural chromosomal abnormalities, with the exception of a reported case with a de novo X; autosome translocation t(X;16) (p11.23;p12.3) (Kurosawa et al, ). These authors could not assign any candidate gene related to blastogenesis in the region of the breakpoints.…”

Section: Discussionmentioning

confidence: 95%

Sirenomelia in Argentina: Prevalence, geographic clusters and temporal trends analysis

Groisman¹,

Liascovich²,

Gili³

et al. 2016

Birth Defects Research

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The observed prevalence was higher than the observed in previous epidemiological studies in other geographic regions. We observed a likely real increase in the initial period of our study. We used strict diagnostic criteria, excluding cases that only had clinical diagnosis of sirenomelia. Therefore, real prevalence could be even higher. This study did not show any geographic clusters. Because etiology of sirenomelia has not yet been established, studies of epidemiological features of this defect may contribute to define its causes. Birth Defects Research (Part A) 106:604-611, 2016. © 2016 Wiley Periodicals, Inc.

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“…Slides were analyzed using a completely motorized epifluorescence microscope (Leica DMRXA2) equipped with a CCD camera. Both the camera and the microscope were controlled using Leica CW4000 M‐FISH software (Leica Microsystems Imaging Solutions, Cambridge, UK) [Kurosawa et al, ].…”

Section: Methodsmentioning

confidence: 99%

De novo duplication of 17p13.1–p13.2 in a patient with intellectual disability and obesity

Kuroda

Ohashi

Tominaga

et al. 2014

American J of Med Genetics Pt A

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17p13.1 Deletion encompassing TP53 has been described as a syndrome characterized by intellectual disability and dysmorphic features. Only one case with a 17p13.1 duplication encompassing TP53 has been reported in a patient with intellectual disability, seizures, obesity, and diabetes mellitus. Here, we present a patient with a 17p13.1 duplication who exhibited obesity and intellectual disability, similar to the previous report. The 9-year-old proposita was referred for the evaluation of intellectual disability and obesity. She also exhibited insulin resistance and liver dysfunction. She had wide palpebral fissures, upturned nostrils, a long mandible, short and slender fingers, and skin hyperpigmentation. Array comparative genomic hybridization (array CGH) detected a 3.2 Mb duplication of 17p13.1-p13.2 encompassing TP53, FXR2, NLGN2, and SLC2A4, which encodes the insulin-responsive glucose transporter 4 (GLUT4) associated with insulin-stimulated glucose uptake in adipocytes and muscle. We suggest that 17p13.1 duplication may represent a clinically recognizable condition characterized partially by a characteristic facial phenotype, developmental delay, and obesity.

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Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3)

Cited by 19 publications

References 25 publications

Sirenomelia: A Multi‐systemic Polytopic Field Defect with Ongoing Controversies

Sirenomelia: A Multi‐systemic Polytopic Field Defect with Ongoing Controversies

Sirenomelia in Argentina: Prevalence, geographic clusters and temporal trends analysis

De novo duplication of 17p13.1–p13.2 in a patient with intellectual disability and obesity

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