Medicine · 2025
De novo Rob translocation 45, XX, rob(13;13)(q10;q10) in a Syrian woman with recurrent miscarriages: A rare case report.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Sandouk Joudy, Hamad Sedra, Al Sakkal Leen, Alhalabi Marwan
Аннотация
RATIONALE: Chromosomal rearrangements play a significant role in 50% of recurrent miscarriage cases. The incidence of chromosomal abnormalities in the population ranges from 1/625 to 1/1500. The 2 most common types of these rearrangements are reciprocal and Robertsonian (Rob) translocation. Rob translocation can be found in 1 in 1000 individuals and is the predominant type in humans. This case highlights the importance of identifying such rare genetic abnormalities in patients with recurrent miscarriage.
PATIENT CONCERNS: We report a 27-year-old Syrian woman who presented at Orient Hospital in Damascus, Syria, with a history of 7 recurrent miscarriages over 10 years of marriage, 6 of these miscarriages occurred in the first trimester. Additionally, she had 5 failed in vitro fertilization (IVF) attempts. Both the phenotypic appearance and hormonal profiles of the couple were normal. There was no history of recurrent miscarriages among other family members.
DIAGNOSES AND INTERVENTIONS: Chromosomal analysis of the patient using the Giemsa trypsin G-banding (GTG)-banding technique revealed an abnormal karyotype with Rob translocation involving both long arms of chromosomes 13, specifically identified as rob(13;13)(q10;q10).
OUTCOMES: We provided the patient with comprehensive and precise genetic counseling, ensuring she fully understood the impact of the Rob translocation on her reproductive potential and future family planning.
LESSONS: In this case, our results enforce the importance of diagnostic procedures, such as cytogenetic analysis and perinatal counseling, in identifying potential chromosomal rearrangements in couples experiencing recurrent miscarriage. To our knowledge, only one similar case was reported. Further research and case documentation could be used to improve understanding of such rare genetic occurrences.
PATIENT CONCERNS: We report a 27-year-old Syrian woman who presented at Orient Hospital in Damascus, Syria, with a history of 7 recurrent miscarriages over 10 years of marriage, 6 of these miscarriages occurred in the first trimester. Additionally, she had 5 failed in vitro fertilization (IVF) attempts. Both the phenotypic appearance and hormonal profiles of the couple were normal. There was no history of recurrent miscarriages among other family members.
DIAGNOSES AND INTERVENTIONS: Chromosomal analysis of the patient using the Giemsa trypsin G-banding (GTG)-banding technique revealed an abnormal karyotype with Rob translocation involving both long arms of chromosomes 13, specifically identified as rob(13;13)(q10;q10).
OUTCOMES: We provided the patient with comprehensive and precise genetic counseling, ensuring she fully understood the impact of the Rob translocation on her reproductive potential and future family planning.
LESSONS: In this case, our results enforce the importance of diagnostic procedures, such as cytogenetic analysis and perinatal counseling, in identifying potential chromosomal rearrangements in couples experiencing recurrent miscarriage. To our knowledge, only one similar case was reported. Further research and case documentation could be used to improve understanding of such rare genetic occurrences.