A 5-year-old boy with 7 q trisomy received general anesthesia for tracheostomy. He was born with multiple morphological malformations including anomalies of ears, eyes, face and vertebral, accompanying difficulty in tracheal intubation. At first we inserted a laryngoscope under awake condition to estimate the difficulty in intubation. Then, we performed intubation under sevoflurane-N2O-O2 anesthesia. After intubation, there was no problem during the operation. A child with chromosome abnormality has multiple malformations and we should be ready for possible difficulties.
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Mol Cytogenet
December 2024
Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
The advent of non-invasive prenatal testing (NIPT) in the screening of fetal abnormalities has optimized prenatal care and decreased the rate of invasive diagnostic tests. In this retrospective descriptive study, we began with 1874 singleton pregnancies. After exclusion of some cases, the study cohort ended up with 1674 cases.
View Article and Find Full Text PDFWMJ
November 2024
Department Of Pediatrics, National Institute Of Child Health, Karachi, Pakistan.
Cureus
September 2024
Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia Health Campus, Kota Bharu, MYS.
Chromosomal rearrangement can disrupt gene function by interfering with coding sequences or their regulatory regions. The breakpoint in these rearrangements can pinpoint the disease-related gene's location. This paper presents two rare cases of chromosomal rearrangement involving chromosome 6 (6p24-25) and chromosome 14 (14q22-23).
View Article and Find Full Text PDFCureus
August 2024
Department of Pediatrics, College of Medicine, King Faisal University, Al-Ahsa, SAU.
Gonadal dysfunction is a well-known endocrine manifestation of Down syndrome (DS) in men. Herein, we report a case of a seven-year-old boy with DS who developed precocious puberty, presenting with a six-month history of frequent erections, sudden growth spurts, and adult odors. Clinical examination revealed stage 2 puberty, with pubic hair development at stage 2 based on Tanner staging and bilateral testicular volumes of 6 mm.
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