Chromosome 22 mosaic monosomy (46,XY/45,XY,-22).

Ann Genet

Department of Genetics, Sart-Tilman University Hospital, Liège State University, Belgium.

Published: December 1987

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.

Download full-text PDF

Source

Publication Analysis

Top Keywords

mosaic monosomy
8
chromosome mosaic
4
monosomy 46xy/45xy-22
4
46xy/45xy-22 dysmorphic
4
dysmorphic mentally
4
mentally defective
4
defective child
4
child mosaic
4
monosomy reported
4
reported chromosome
4

Similar Publications

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 PDF
Article Synopsis
  • Turner syndrome is a genetic disorder caused by the deletion of one X chromosome, leading to diverse karyotypes and phenotypes, but predicting phenotypes remains challenging due to mosaicism.
  • A study included 487 Turner women with non-mosaic X chromosome structural rearrangements and found prevalence rates of short stature (72.4%) and ovarian dysfunction (78.8%) linked to specific deletion groups.
  • Understanding the specific X chromosome breakpoints is crucial for managing Turner syndrome, particularly for predicting and addressing ovarian dysfunction and future fertility issues.
View Article and Find Full Text PDF

Two remarkable cases of haploinsufficiency found in the DYRK1A gene.

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 PDF

The Influence of X Chromosome Parent-of-Origin on Glycemia in Individuals with Turner Syndrome.

Horm 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 PDF

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.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!