The Constitutional Balanced Translocation t(11;22)(q23;q11.2)-An Indian Account

Kamath, Vandana; Srivastava, Vivi M.; Yuvarani, S; Chacko, Mary Purna; Bhattacharya, Sumitra; Oommen, Samuel P; Danda, Sumita; Korula, George

doi:10.7860/jcdr/2019/36950.12438

Cited by 2 publications

(9 citation statements)

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“…There have been several reports of children with abnormal phenotypes which differed from Down syndrome and were considered to be due to trisomy 22. [7][8][9] Studies on affected families after the advent of chromosomal banding techniques 10 demonstrated that the trisomy 22 was a supernumerary der (22), which originated from a parent who carried the balanced t(11;22) (q23;q11.2). 11,12 This supernumerary chromosome was seen to consist of the short (p) arm, the centromere, the proximal part of the long (q) arm of chromosome 22, and the terminal part of chromosome 11q resulting in partial trisomies for the terminal and proximal segments of chromosomes 11 and 22.…”

Section: Discussionmentioning

confidence: 99%

“…Further studies revealed that in 99% of cases, supernumerary der (22) was inherited, and only rarely was it de novo. 4,13 Segregation analysis in 16 families with the t(11;22) conducted by Shaikh et al 11 confirmed that the supernumerary derivative chromosome 22 was a product of a 3:1 mal segregation at meiosis I in a carrier of a balanced t (11;22).…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, the risk of recurrence among siblings was 3.7% when the mother was a carrier and 0.7%, if the father carried this translocation. 14 The propensity of female carriers to stand a higher chance of bearing an abnormal embryo with der (22) was not yet clear. Few studies have also described reduced fertility among male carriers which could possibly explain the increased risk among female carriers in bearing an abnormal progeny, although this could be a result of ascertainment bias.…”

Section: Discussionmentioning

confidence: 99%

“…5 At least 20 G-banded metaphases were analyzed and reported in accordance with the International System for Human Cytogenomic Nomenclature (ISCN). 6 Fluorescence in situ hybridization (FISH) was performed in all children with the supernumerary der (22) using standard protocols. 5 The clinical features were retrieved from our medical records.…”

Section: Materials a N D Methodsmentioning

confidence: 99%

“…Emanuel syndrome (ES) or supernumerary derivative (22) t (11;22) syndrome is now a well-recognized clinical entity characterized by severe intellectual disability/global developmental delay, craniofacial dysmorphism, notably preauricular sinuses/pits, cleft palate, micrognathia, and heart defects. [1][2][3] Individuals affected with ES have 47 chromosomes due to gain of a small supernumerary chromosome derived from an unbalanced translocation (11;22)(q23;q11.2) consisting of the short (p) arm, centromere, proximal part of the long (q) arm of chromosome 22, and the terminal part of chromosome 11q, resulting in partial trisomy for chromosomes 11 and 22. This supernumerary derivative 22 is almost always formed due to a 3:1 meiotic mal-segregation of a balanced t(11;22)(q23;q11.2) in a carrier parent in the majority of children.…”

Section: Introductionmentioning

confidence: 99%

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Phenotypic Features and Inheritance Pattern of Emanuel Syndrome: An Indian Perspective

Koshy¹,

Kamath²,

Srivastava³

et al. 2021

International Journal of Infertility &Amp; Fetal Medicine

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Aim and objective: To study the phenotypic features and inheritance patterns in children diagnosed with Emanuel syndrome (ES). Materials and methods: All children who underwent cytogenetic analysis at the Christian Medical College, Vellore and whose karyotypes showed the supernumerary chromosome 22 derived from an unbalanced translocation (11;22)(q23;q11.2) were included. Karyotypes of family members were retrieved from hospital records. Metaphases were obtained from phytohemagglutinin-stimulated peripheral blood cultured using standard protocols. At least 20 Giemsa-banded metaphases were analyzed and reported in accordance with the International System for Human Cytogenomic Nomenclature. The clinical features and imaging findings were retrieved from our medical records. The karyotype findings of parents and family history including the obstetric history of all mothers were recorded. Results: There were eight children, three girls and five boys, all of whom were from unrelated families. The age at presentation ranged from 8 months to 8 years of age. Three families presented with significant family history in the form of previous sibling deaths, recurrent abortions in the mother, and maternal siblings' death. All eight children presented with global developmental delay. Preauricular sinus was found in six children (6/8,75%), while microcephaly and hypotonia in five each (5/8,62.5%). More than half of our children presented with structural cardiac and brain malformations. In three children, the der( 22) was found to have originated from a maternal source of the t(11;22). All three mothers who harbored this translocation were phenotypically normal. Conclusion:The characteristic clinical features of ES found in our study included preauricular sinus, microcephaly, hypotonia, cardiac defects, and structural brain malformations. The maternal source of the t(11;22) was the commonest mode of inheritance among children diagnosed with ES. Clinical significance: Emanuel syndrome is a rare syndrome and it is extremely important to identify the phenotypic features of this clinical entity since early intervention can aid in appropriate counselling and offering prenatal testing. The majority of children diagnosed with ES were found to have inherited this genetic defect due to a translocation (11;22) running in the family. Hence, a clear understanding of the reproductive outcomes of the t(11;22) is of vital importance in counseling the family members and offering prenatal testing.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Materials a N D Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Phenotypic Features and Inheritance Pattern of Emanuel Syndrome: An Indian Perspective

Koshy¹,

Kamath²,

Srivastava³

et al. 2021

International Journal of Infertility &Amp; Fetal Medicine

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Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)—Case Report

et al. 2022

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Background Maternal non-Robertsonian translocation-t(20;22)(q13;q11.2) between chromosomes 20 and 22resulting in an additional complex small supernumerary marker chromosome as derivative (22)inherited to the proband is not been reported yet. Case presentation A 4 years old boy with a history of developmental delay, low set ears, and facial dysmorphism was presented to the genetic clinic. Periauricular pit, downward slanting eyes, medially flared eyebrows, downturned mouth corners, and micrognathia were observed. He had congenital heart defect with atrial septal defect (ASD), ventricular septal defect (VSD), and central nervous system (CNS) anomalies with the gross cranium. Karyotype analysis, Fluorescent in-situ hybridization analysis (FISH), and Chromosomal microarray analysis (CMA) were used to determine the chromosomal origin and segmental composition of the derivative 22 chromosome. Karyotype and FISH analyses were performed to confirm the presence of a supernumerary chromosome, and Microarray analysis was performed to rule out copy number variations in the proband's 22q11.2q12 band point. The probands' karyotype revealed the inherited der(22)t(20;22)(q13;q11.2)dmat. Parental karyotype confirmed the mother as the carrier, with balanced non-Robertsonian translocation-46,XX,t(20;22)(q13;q11.2). Conclusion The mother had a non-Robertsonian translocation t(20;22)(q13;q11.2) between chromosomes 20 and 22, which resulted in Emanuel syndrome in the proband. The most plausible explanation is 3:1 meiotic malsegregation, which results in the child inheriting derivative chromosome. The parental karyotype study aided in identifying the carrier of the supernumerary der(22), allowing future pregnancies with abnormal offspring to be avoided.

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The Constitutional Balanced Translocation t(11;22)(q23;q11.2)-An Indian Account

Cited by 2 publications

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Phenotypic Features and Inheritance Pattern of Emanuel Syndrome: An Indian Perspective

Phenotypic Features and Inheritance Pattern of Emanuel Syndrome: An Indian Perspective

Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)—Case Report

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