A slightly dysmorphic and mentally defective child with mosaic monosomy 22 is reported. Chromosome 22 is absent in 10.5% of lymphocytes and 8.3% of fibroblasts. This is the second case report of that kind.
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Cells
December 2024
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line 3, 199034 Saint Petersburg, Russia.
Chromosomal abnormalities of the embryo are the most common cause of first-trimester pregnancy loss. In this single-center study, we assessed the frequency and the spectrum of chromosomal abnormalities in miscarriages for each year of maternal age from 23 to 44. Cytogenetic data were obtained by conventional karyotyping of 7118 miscarriages in women with naturally conceived pregnancies.
View Article and Find Full Text PDFCongenit Anom (Kyoto)
January 2025
Department of Obstetrics and Gynecology, Yokohama City University School of Medicine, Yokohama, Japan.
Acta Neurol Belg
November 2024
Department of Medical Genetics, Ankara Etlik City Hospital, Varlık District, Halil Sezai Erkut Street, No. 5, Yenimahalle, 06170, Ankara, Türkiye.
Introduction: DYRK1A syndrome, also known as "Intellectual developmental disorder, autosomal dominant 7," is a syndromic intellectual disability characterized by dysmorphic features including deep-set eyes, prominent ears, and retrognathia. Patients have neurodevelopmental problems, ocular anomalies, and multisystem phenotypes. Most cases result from single nucleotide variants causing DYRK1A-haploinsufficiency, while deletions occur in < 15% of cases.
View Article and Find Full Text PDFHorm Res Paediatr
November 2024
Division of Endocrinology and Diabetes, Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA.
Introduction: The cause of increased diabetes mellitus (DM) risk in individuals with Turner syndrome (TS) is poorly understood. Parent-of-origin effects related to whether the maternal or paternal X chromosome (Xchr) remains intact have been found for several TS phenotypes, including hypercholesterolemia. Therefore, Xchr parent-of-origin may impact DM risk in TS.
View Article and Find Full Text PDFAnn Pediatr Endocrinol Metab
October 2024
Department of Pediatrics, College of Medicine, Ewha Womans University, Seoul, Korea.
Purpose: Short stature is the main characteristic of Turner syndrome (TS) patients and growth hormone (GH) therapy has been essential for achieving the final adult height (Ht). In the present study, the response of TS patients with different types of karyotype abnormalities to GH therapy was analyzed.
Methods: The clinical parameters of 194 TS patients registered in the LG Growth Study were retrospectively reviewed.
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