Two Familial Cases of Robertsonian Transloacations 13; 14 and Its Clinical Consequences

Jaiswal, Sushila; Upadhyay, Aishvarya; Ali, Ahmad; Upadhyay, Shashi Kala; Kumar, Ashok; Kumar, Amit

doi:10.4172/2157-7412.1000283

Cited by 5 publications

(4 citation statements)

References 19 publications

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“…Robertsonian translocation involving chromosomes 13 and 14 occur with a prevalence of 0.97 in 1,000 in general population, but it is most frequent in infertile men 32 . Balanced autosomal translocation carriers generally have a normal phenotype, but the failure of spermatogenesis is frequently seen because translocations can damage the structure of important genes related to spermatogenesis 31 , and have a variable influence on the carrier's sperm counts, which can range from normal to low, or even to total aspermia leading to fertility problems, such as infertility, repeated miscarriages, or birth of a child affected with congenital abnormalities 34,35 .…”

Section: Discussionmentioning

confidence: 99%

“…Pre-implantation genetic diagnosis (PGD) is an effective strategy for carriers of this chromosomal rearrangement. In order to avoid abnormal pregnancy, normal or balanced embryo should be selected for transfer by PGD analysis of translocation chromosomes, because these patients are at increased risk of conceiving chromosomally abnormal embryos, resulting in implantation failure, miscarriage or delivery of affected offspring 33,35 .…”

Section: Discussionmentioning

confidence: 99%

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Cytogenetic Investigations and Y-Chromosome Microdeletion Screening in some Infertile Kurdish males In Erbil province/ Iraq

Abdulwahid

Al-Attar²,

Mohammed³

2022

Baghdad Sci.J

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Infertility is a disease of the reproductive system defined by the failure to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercourse. Worldwide, infertility affects approximately 15% of all couples trying to conceive. Male infertility is responsible for about 50% of the infertility cases. Chromosomal abnormalities and Y-chromosome microdeletions are the most common genetic causes of male infertility. Klinefelter syndrome (KS) is the most prevalent factor of the chromosomal abnormality in the infertile male. Azoospermia Factor (AZF) microdeletions located on the Y chromosome are one of the recurrent genetic cause of male infertility. This study aims to investigate the prevalence of chromosomal anomalies and AZF microdeletions in 296 infertile Kurdish men in Erbil province, 289 patients diagnosed as azoospermia (97.6%) and 7 patients as severe oligozoospermia (2.4%) and 50 healthy men as control group. Twenty nine patients (9.8%) had various chromosomal abnormalities. The most common chromosomal abnormalities were found in sex chromosomes (93.1%; 29/27), among these abnormalities 20 patients (69%) had Klinefelter syndrome 47,XXY karyotype, 4 patients (13.8%) had 45X0/46, Xder(Y), 2 patients (6.9%) had XXY t(11;22)(q25;q13) and 1 patients (3.4%) had Mosaic Turner syndrome 46XY/45X0. The autosomal chromosomal abnormalities (6.9%; 2/29) detected in 2 patients 45, XY, rob (13;14) (q10;q10). Y chromosome microdeletions were found in 10 of 289 patients with azoospermia (3.5%), three of them (30%) had microdeletions in the AZFc region, 3 of them (30%) had microdeletions in the AZFb region, also other 3 patients had microdeletions in the b and c of AZF (AZF b,c) region, and the final one patient (10%) had microdeletions in the all a, b and c (AZF a,b,c) region. Combined Y chromosome microdeletions and chromosomal abnormalities were detected in 3 patients.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Cytogenetic Investigations and Y-Chromosome Microdeletion Screening in some Infertile Kurdish males In Erbil province/ Iraq

Abdulwahid

Al-Attar²,

Mohammed³

2022

Baghdad Sci.J

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“…La madre ha tenido 8 embarazos en total, dos de ellos resultaron en hijos fenotípicamente normales, un embarazo fue de gemelos, uno de ellos fenotípicamente normal y otro con síndrome de Down, dos embarazos fueron interrumpidos al detectarse síndrome de Down en el feto y el último seguía en curso al momento de realizado el reporte de caso. Jaiswal S, et al 2016 (22). India Caso 1: Padre e hijo ambos presentaban paladar submucoso hendido y el hijo tenía trisomía 21.…”

Section: Autoresunclassified

Implicaciones causadas por la presencia y segregación de translocaciones robertsonianas. Su diagnóstico y efectos en la población

2022

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Las translocaciones robertsonianas se producen por la fusión de los brazos largos de dos cromosomas acrocéntricos y son frecuentes en los seres humanos. Sin embargo, su presencia puede no ser detectada en el fenotipo. Sólo se sospechan cuando los portadores tienen problemas de fertilidad, aunque no sucede en todos los casos. El conocimiento de la presencia de dichas translocaciones es relevante para los médicos tratantes y parejas que desean una familia sin saber que son portadores. Ya que su descendencia puede heredar la translocación robertsoniana y ser portadora o tener desbalance cromosómico lo que genera un fenotipo clínico. Se realizó una revisión descriptiva de la literatura, con el objetivo de proporcionar a los profesionales de la salud la información sobre los últimos avances referentes a las translocaciones robertsonianas, así como dar una introducción accesible al tema. Se buscó información de 2014 a 2020, en bases de datos de artículos científicos. Se encontraron 254 referencias y seleccionaron 47. Se identificaron cuatro énfasis de estudio: las translocaciones y su efecto en la fertilidad, las translocaciones como causa de malformaciones congénitas, la importancia y utilidad del diagnóstico pre-implantación, y el efecto de las translocaciones en la población desde un enfoque estadístico. Los artículos publicados relacionados con la detección de estas translocaciones en individuos con un historial familiar de abortos espontáneos fueron los más numerosos. Se pone de manifiesto la necesidad de hacer una difusión más amplia sobre la identificación e implicaciones de las translocaciones robertsonianas, para el manejo oportuno de los afectados.

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“…Carriers of rob (13;14) are phenotypically normal but there is an increased risk that they can produce unbalanced gametes that will result in monosomic or trisomic fetuses. Some carriers can also face problems related to reduced fertility, unfavorable pregnancy outcomes like spontaneous abortions, stillbirths, offspring with intellectual disabilities, and uniparental disomy-related complications [4,6,7].…”

Section: Introductionmentioning

confidence: 99%

A Familial Case of Robertsonian Translocation 13;14: Case Report

Saeed¹,

Hassan²,

Javed³

et al. 2022

Cureus

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Robertsonian translocations are the most common form of chromosomal abnormalities that specifically involve the acrocentric chromosomes. Robertsonian translocation between chromosomes 13,14 and 14,21 are the most frequently reported. Infertility is common in genetically balanced carriers of these translocations, and their conceptions are more likely to have imbalances. Here we have reported a case of an 18-year-old female presenting with a complaint of primary amenorrhea. Cytogenetic analysis revealed a familial case of maternally inherited Robertsonian translocation (rob(13;14)(q10;q10)) affecting all the siblings. Genetic counseling and genetic testing are recommended especially in familial cases as the carriers are normal but can lead to several genetic disorders in their future generation.

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Two Familial Cases of Robertsonian Transloacations 13; 14 and Its Clinical Consequences

Cited by 5 publications

References 19 publications

Cytogenetic Investigations and Y-Chromosome Microdeletion Screening in some Infertile Kurdish males In Erbil province/ Iraq

Cytogenetic Investigations and Y-Chromosome Microdeletion Screening in some Infertile Kurdish males In Erbil province/ Iraq

Implicaciones causadas por la presencia y segregación de translocaciones robertsonianas. Su diagnóstico y efectos en la población

A Familial Case of Robertsonian Translocation 13;14: Case Report

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