Gender Affects Clinical Suspicion of Down Syndrome

Kovaleva, N. V.

doi:10.5772/19362

Cited by 1 publication

(1 citation statement)

References 42 publications

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“…In our study, the confirmed anomaly rate was 49.4% in females and 68.4% in males, and this difference was statistically significantly higher in males than in females. A meta‐analysis aligns with this study indicates that 1.3 times more males than females with Down syndrome, due to theories such as co‐orientation of non‐homologous in male meiosis, greater access of Y‐bearing sperm to the disomic ova for chromosome 21, or promotion of non‐disjunction by Y‐bearing sperm in the ova, and intrauterine selection against females 53,54 . In our study, male patients (6.7%) had statistically significantly higher rates of chromosomal abnormalities than female patients (1.5%).…”

Section: Discussionsupporting

confidence: 81%

Evaluation of chromosomal abnormalities in the postnatal cohort: A single‐center study on 14,242 patients

Akalin,

Sahin,

Paskal

et al. 2023

Clinical Laboratory Analysis

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Background and AimChromosomal analysis is a laboratory technique used to examine the chromosomes of an individual, offering insights into chromosome numbers, structures, and arrangements to diagnose and comprehend genetic diseases. This retrospective study provides a comprehensive understanding of the distribution by indications in a large cohort of 14,242 patients and the frequency of chromosomal abnormalities in different clinical populations.MethodThe study examined various indications for karyotype evaluation, with recurrent pregnancy loss being the most common indication, followed by intellectual disability, dysmorphic features, congenital anomalies, and developmental delay.ResultsThe overall chromosomal abnormality rate was found to be 5.4%, with numerical abnormalities accounting for the majority of cases (61.7%). Trisomies, particularly trisomy 21, were the most frequent numerical abnormalities. In terms of structural abnormalities, inversions and translocations were the most commonly identified. The rates of chromosomal anomalies varied in specific indications such as amenorrhea, disorders of sex development, and Turner syndrome. The study also highlighted significant differences between males and females in the presence of chromosomal abnormalities across certain indications. Males exhibited a higher incidence of chromosomal abnormalities in cases of Down syndrome and infertility, whereas females showed higher abnormalities in terms of recurrent pregnancy loss.ConclusionWhile this study provides valuable insights into the frequency and distribution of chromosomal abnormalities, it has limitations, including its retrospective design and reliance on data from a single medical genetics department. Nevertheless, the findings emphasize the importance of karyotype analysis in diagnosing chromosomal disorders and providing appropriate management, while also pointing to potential gender‐related variations in chromosomal abnormalities that warrant further investigation.

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Section: Discussionsupporting

confidence: 81%