Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

Ganguly, Bani Bandana; Kadam, Vijay; Kadam, Nitin N.

doi:10.1155/2011/396450

Cited by 7 publications

(5 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The same karyotype has been reported in one patient of India [ 8 ]. Conventional karyotype shows patient with 46, XY, der (6) t (6; 10) (p23; q24) pattern which is the same as patient 1.…”

Section: Discussionsupporting

confidence: 81%

Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations

Liu

Huang

et al. 2016

Mol Cytogenet

View full text Add to dashboard Cite

BackgroundChromosomal abnormalities that result in genomic imbalances are main causes of congenital and developmental anomalies including intellectual disability and multiple congenital malformations. In this report we describe four patients from three families with imbalanced translocations. Only a small percentage of imbalanced translocation individuals can be born to live, most of them were aborted in embryonic period. It is of great significances to precisely analysis the chromosome variation to study the relationship between genotype and phenotype.ResultsFour patients showed common clinical manifestations including delayed growth, intellectual disability, language barrier and facial dysmorphisms. In addition to the above features, lower limbs dysplasia and both foot eversion were found in patient 1, brachydactylic hand, cerebellar ataxia and congenital heart defects were also found in patient 4. Conventional karyotype analysis revealed abnormal karyotypes 46, XX, der (6) t (6: 10) (p23; q24), 46, XX, der (20) t (3; 20) (p23; p13) and 46, XX, der (22) t (3; 22) (q27; q13.3) in the four patients, respectively. Array-CGH analyses confirmed 23.6 Mb duplication on 10q25.1-q26.3 and 0.9 Mb deletions on 6p25.3, 19.9 Mb duplication on 3p24.3-p26.3 and 0.25 Mb deletion on 20p13 and 12.5 Mb duplication on 3q27.2-q29 and 1.9 Mb deletions on 22q13.2-q13.33 in the four patients, respectively.ConclusionParents with balanced translocation are passed the imbalanced chromosome to patient, and the partial monosomy and partial trisomy lead to multiple congenital malformations of four patients.Electronic supplementary materialThe online version of this article (doi:10.1186/s13039-016-0244-x) contains supplementary material, which is available to authorized users.

show abstract

“…The same karyotype has been reported in one patient of India [ 8 ]. Conventional karyotype shows patient with 46, XY, der (6) t (6; 10) (p23; q24) pattern which is the same as patient 1.…”

Section: Discussionsupporting

confidence: 81%

Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations

Liu

Huang

et al. 2016

Mol Cytogenet

View full text Add to dashboard Cite

show abstract

“…Apparently constitutional balanced translocations associated with normal phenotypes can be transmitted through generations without major adverse effects, except for an increased risk of reproductive loss or abnormal phenotypes in offspring ( Gribble et al, 2005 ). Phenotypically normal carriers of balanced translocations are at a higher risk of producing offspring with unbalanced translocations with potential outcomes of developmental delay, congenital cardiac defects, urogenital anomalies, respiratory or immune dysfunctions, or facial or skeletal dysmorphias ( Ganguly et al, 2011 ). These carriers of balanced translocations are frequently identified only after recurrences of unbalanced offspring within families.…”

Section: Introductionmentioning

confidence: 99%

A Systematic Review of Reproductive Counseling in Cases of Parental Constitutional Reciprocal Translocation (9;22) Mimicking BCR-ABL1

Gao

Rice²,

Wodoslawsky³

et al. 2022

Front. Genet.

View full text Add to dashboard Cite

We aim to determine the spectrum of cytogenetic abnormalities and outcomes in unbalanced offspring of asymptomatic constitutional balanced t(9;22) carriers through a systematic literature review. We also include a case of a constitutional balanced t(9;22) carrier from our institution. Among the 16 balanced t(9;22) carriers in our review, 13 were maternal and 3 were paternal. Of the 15 unbalanced translocation cases identified, 13 were live births, one was a missed abortion, and one resulted in pregnancy termination. The spectrum of established syndromes reported among the live births was the following: trisomy 9p syndrome (6/13), dual trisomy 9p and DiGeorge syndrome (3/13), dual 9q subtelomere deletion syndrome and DiGeorge syndrome (1/13), 9q subtelomere deletion syndrome (1/13), and DiGeorge syndrome (1/13). One unbalanced case did not have a reported syndrome. The phenotype of the unbalanced cases included cardiac abnormalities (5/13), neurological findings (7/13), intellectual disability (6/10), urogenital anomalies (3/13), respiratory or immune dysfunction (3/13), and facial or skeletal dysmorphias (13/13). Any constitutional balanced reciprocal t(9;22) carrier should be counseled regarding the increased risk of having a child with an unbalanced translocation, the spectrum of possible cytogenetic abnormalities, and predicted clinical phenotype for the unbalanced derivative.

show abstract

“…2 The rearrangement of chromosomes results in different types of structural changes such as translocations, deletions, inversions and duplications. 3 Structural abnormalities result in either balanced or unbalanced translocations.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of constitutional chromosomal abnormalities: experience of a tertiary healthcare diagnostic laboratory in India

et al. 2017

View full text Add to dashboard Cite

Background: Structural and numerical chromosomal aberrations contribute significantly to genetic disease. Unbalanced aberrations are associated with congenital anomalies, mental retardation and underdevelopment of secondary sexual characters while balanced structural chromosomal abnormalities contribute to an increased risk for infertility, bad obstetric history and chromosomally unbalanced offspring with multiple congenital abnormalities and intellectual impairment. Aim of the current study was to determine the prevalence and characterization of cytogenetic aberrations in 8445 cases referred during the years 2010-2013 for cytogenetic evaluation.Methods: Metaphase chromosomes from 72-hour blood lymphocyte culture were prepared for Giemsa-Trypsin-G banding. Characterization of marker chromosomes were done by M-FISH and subtle chromosomal aberrations were evaluated by targeted FISH using centromeric probes for chromosome 13,18,21, X and Y and loci specific probes for microdeletion syndromes and SRY gene.Results: Variant forms of trisomies i.e. partial trisomies were seen in cases with Edwards and Patau syndrome. Sex chromosomal abnormalities associated with puberty and reproductive problems were seen in cases with Turner syndrome, Klinefelter syndrome and also in females with primary amenorrhea. Autosomal reciprocal translocations were the most common chromosomal changes in couples with recurrent abortions. In order to increase the diagnostic yield and evaluate variations, FISH and m-FISH were additional tests done to characterize the genetic variations.Conclusions: Along with Karyotyping SRY, XIST, SHOX9 gene analysis and Y microdeletion analysis are also critial tests to assess the possibilities for normal development or assisted reproduction in individuals with sex chromosomal abnormalities.

show abstract

Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

Cited by 7 publications

References 20 publications

Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations

Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations

A Systematic Review of Reproductive Counseling in Cases of Parental Constitutional Reciprocal Translocation (9;22) Mimicking BCR-ABL1

Evaluation of constitutional chromosomal abnormalities: experience of a tertiary healthcare diagnostic laboratory in India

Contact Info

Product

Resources

About