Partial Trisomy of the Pericentromeric Region of Chromosome 5 in a Girl with Binder Phenotype

Hadzsiev, Kinga; Dávid, Dezső; Szabó, Gyula; Czakó, Márta; Melegh, Béla; Kosztolányi, György

doi:10.1159/000369653

Cited by 4 publications

(9 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A critical region has been proposed for 5p13, which, in trisomy, is associated with pregnancy complicated by polyhydramnios, psychomotor delay and characteristic facial features. Of the ten reported cases with a molecular cytogenetic content overlapping our case, six involve 5p-arm euchromatic content, namely, the critical region proposed for 5p13, and euchromatic material from 5q-arm (Stankiewicz et al [ 5 ] (case 1); D’Amato Sizonenko et al [ 9 ] (case 2); Sarri et al [ 10 ]; Hadzsiev et al [ 13 ]; Camerota et al [ 14 ] and Armstrong et al [ 4 ]). The dysmorphic features of these cases are concordant with the ones described for trisomy involving 5p13 (Avansino et al [ 7 ]; D’Amato Sizonenko et al [ 9 ] (case 1)).…”

Section: Discussionmentioning

confidence: 73%

“…73% of patients have developmental delay [ 4 , 7 , 9 , 11 – 13 ], while 63% have intellectual disability [ 4 , 8 – 10 , 12 , 13 ].…”

Section: Discussionmentioning

confidence: 99%

“…82% of patients presented macrocephaly [ 4 , 7 , 9 – 11 , 13 , 14 ], 91% have hypertelorism [ 7 – 14 ], 63% have upslanted palpebral fissures [ 7 – 9 , 11 , 14 ], 54% have midface hypoplasia [ 4 , 7 , 9 , 13 ] and 73% have depressed nasal bridge [ 7 – 9 , 11 , 13 , 14 ].…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

First case of two supernumerary markers derived from chromosome 5 and chromosome 8

et al. 2022

View full text Add to dashboard Cite

Background Small supernumerary marker chromosomes (sSMC) are additional centric chromosome fragments too small to be identified by banding cytogenetics alone. A sSMC can originate from any chromosome and it is estimated that 70% of sSMC are de novo, while 30% are inherited. Cases of sSMC derived from chromosome 5 (sSMC5) are rare, accounting for1.4% of all reported sSMC cases. In these patients, the most common reported features are macrocephaly, dysmorphic facial features, heart defects, growth retardation, hypotonia, and intellectual disability. Also sSMC derived from chromosome 8 are very rare and the phenotype of patients with sSMC8 is very variable. Common clinical features of the patients include developmental delay, mental retardation, intellectual disability, hypotonia, hypospadias, attention deficit hyperactivity disorders (ADHD), skeletal anomalies, dysmorphic facial features, and renal dysplasia. To the best of our knowledge, in literature there are no cases with coexistence of sSMC5 and sSMC8, so we reviewed the literature to compare cases with SMC5 and those with SMC8 separately. This study is aimed to highlight the unique findings of a patient with the coexistence of sSMC5 and sSMC8. Case presentation We describe a female patient with two supernumerary markers derived from chromosome 5 (SMC5) and chromosome 8 (SMC8). The patient was born prematurely at 30 weeks with respiratory distress and bronchodysplasia. On physical examination she presented dysmorphic features, respiratory issues, congenital heart defect, developmental delay, and intellectual disability. The G-banded chromosome analysis on cultured lymphocytes revealed in all the analyzed cells a female karyotype with the presence of two supernumerary chromosomal markers and the array-CGH highlighted the region and the size of these two duplications. We also used the fluorescent in situ hybridization analysis (FISH) using painting of chromosomes 5 and 8 to confirm the origin of the two sSMC. So, the karyotype of the patient was: 48, XX, +mar1, +mar2. Conclusions This is the first case with two markers: one from chromosome 5 and one from chromosome 8. Based on the data reported, we can affirm that the phenotype of our patient is probably caused mainly by the presence of the sSMC.

show abstract

Section: Discussionmentioning

confidence: 73%

“…73% of patients have developmental delay [ 4 , 7 , 9 , 11 – 13 ], while 63% have intellectual disability [ 4 , 8 – 10 , 12 , 13 ].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

First case of two supernumerary markers derived from chromosome 5 and chromosome 8

et al. 2022

View full text Add to dashboard Cite

show abstract

“…A diagrammatic representation of the chromosomal content involved in various cases from the Small Supernumerary Marker Chromosome Database ( http://ssmc-tl.com/sSMC.html ). These cases involve overlapping chromosome 5 material with our patient [ 6 , 14 , 22 , 28 – 30 ]. The red boxes correspond to cases reported with clinical findings and the green boxes correspond to cases reported with negative clinical findings …”

Section: Resultsmentioning

confidence: 86%

“… a Dysmorphic facial features described in individuals included dolichocephaly, epicanthal folds, upslanting palpebral fissures, hypertelorism, microphthalmia/coloboma, strabismus, broad nasal bridge, short nose, midface hypoplasia, macroglossia, microretrognathia, pre-auricular pits, and/or low-set/dysplastic ears [ 6 , 7 , 10 , 14 , 15 , 22 , 28 , 31 , 32 ]. “NR” represents that the feature was not reported in the publication …”

Section: Discussionmentioning

confidence: 99%

Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling

et al. 2018

View full text Add to dashboard Cite

BackgroundSupernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype correlations for accurate, comprehensive genetic counseling. The purpose of this study is to highlight the unique findings of a patient with a 5p13.3-q11.2 duplication arising from a SMC5 and compare and contrast the phenotype with cases in the literature.Case presentationWe report on an adult male with a 22 Mb duplication of chromosome 5p13.3-q11.2 resulting from a small SMC5. The patient has a history of prenatal polyhydramnios, dysmorphic features, respiratory issues, talipes equinovarus, hypotonia, developmental delay, and autistic features. The patient also has novel features of aortic dilation, pectus excavatum, kyphoscoliosis, and skin striae, suggestive of a connective tissue disorder. Despite these features he did not meet clinical diagnostic criteria for a well-characterized connective tissue disorder. Additional molecular genetic testing for syndromic and non-syndromic aortic aneurysms was negative.ConclusionsMany of the patient’s features are consistent with individuals reported with 5p13 duplication syndrome and similar cases of SMC5, including polyhydramnios, macrocephaly, dolichocephaly, pre-auricular pits, arachnodactyly, respiratory problems, and developmental delays. It is unclear if the patient’s unique features of aortic dilation, pectus excavatum, kyphoscoliosis, and skin striae could be novel features of the SMC5 given its rarity and the few well-phenotyped adults in the literature. This report reviews the literature and provides additional phenotypic information to define the genotype-phenotype correlation of SMC5 and 5p13 duplication syndrome.

show abstract

Binder's syndrome: A narrative review

Siddiqui

Sennimalai

Samrit

et al. 2022

Special Care in Dentistry

View full text Add to dashboard Cite

The classical features of Binder's syndrome (BS) have been widely reported, yet there is a lack of information on diagnostic and treatment challenges. Therefore, we aimed to review the literature on various aspects, including the role of a multidisciplinary approach in the management of BS. Methods: A thorough literature search was performed on PubMed, Scopus, Embase, Ovid, Web of Science, EBSCOhost, and Google Scholar using the keywords"Maxillonasal dysplasia", "Maxillonasal dysostosis", "nasomaxillary hypoplasia", "Binder type", "Binder syndrome", "Binder phenotype", and "OMIM 155050". In addition, the articles published in the English language from the inception of the database until June 2021 were considered. Results:The search of different databases yielded 958 publications, out of which 145 relevant articles were reviewed. The studies were categorised by year of publication, study design, and theme. Most of the studies were case reports (42%) followed by case series (19%). The most reported topic was based on different surgical techniques (42%). Finally, the results were synthesised into a narrative review. Conclusions:The need for a multidisciplinary approach involving clinicians from different specialities is highlighted. Future research is warranted to develop concrete clinical guidelines for the management of this syndrome.

show abstract

Partial Trisomy of the Pericentromeric Region of Chromosome 5 in a Girl with Binder Phenotype

Cited by 4 publications

References 20 publications

First case of two supernumerary markers derived from chromosome 5 and chromosome 8

First case of two supernumerary markers derived from chromosome 5 and chromosome 8

Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling

Binder's syndrome: A narrative review

Contact Info

Product

Resources

About