A mother's experiencing of the development of her son with "XYY syndrome" is presented based on notes from the mother's diary. According to recent findings in unselected longitudinal studies the boy clearly belonged to a subgroup of the more severely affected children. His developmental language and motor delays, other language problems and problems at school were typical, whereas his slightly reduced IQ, in the lower normal range, and aggressive and autistic symptoms were atypical. In many ways the mother's experience is comparable to that of parents of mentally retarded children. Complicating factors were the inconspicuous phenotype, late diagnosis and lack of professional help. It is shown that parental adaptation to a "handicapped" child can occur in phases. These can be understood through models of mourning or coping. It would be of great help to these families if self-help groups would be established.

Download full-text PDF

Source

Publication Analysis

Top Keywords

child xyy
4
xyy syndrome
4
syndrome experienced
4
experienced mother
4
mother report
4
report daily
4
daily journal
4
journal recordings]
4
recordings] mother's
4
mother's experiencing
4

Similar Publications

Objective: To compare the prevalence of neurodevelopmental and mental health diagnoses in a national sample of youth with sex chromosome trisomies (SCTs) with matched controls.

Methods: Patients in PEDSnet and a diagnosis code mapping to 47,XXY/Klinefelter syndrome (n = 1171), 47,XYY/Double Y syndrome (n = 243), or 47,XXX/Trisomy X syndrome (n = 262) were matched with controls using propensity scores. Generalized estimating equations computed odds ratios (OR) with 95% confidence intervals (CI) for the prevalence of diagnoses within the neurodevelopmental and mental health composites, psychotropic medication prescriptions, and encounters with behavioral health and therapy providers.

View Article and Find Full Text PDF

Sex chromosome trisomies (SCTs) are a group of genetic disorders characterized by presence of a supernumerary sex chromosome, resulting in karyotypes other than XX or XY. These include XXX (Trisomy X), XXY (Klinefelter syndrome), and XYY (Jacobs syndrome). Sex chromosome trisomies have been linked to increased risk for psychopathology; however, this relationship warrants additional research.

View Article and Find Full Text PDF

The clinical performance of fetal sex chromosome abnormalities in serum biochemical screening in the second trimester.

Sci Rep

November 2024

Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

This study aimed to investigate the serum biochemical markers' propensity associated with sex chromosome abnormalities (SCAs) and assess the clinical efficacy of SCAs in serum biochemical screening during the second trimester. A retrospective case-control analysis was conducted on pregnant women who underwent serum biochemical screening during the second trimester. The study compared groups of women with SCAs to those with normal chromosome karyotypes to assess changes in biochemical markers.

View Article and Find Full Text PDF

Autism spectrum disorder (ASD) is a genetically heterogeneous neurobehavioral disorder. The etiology and the inheritance pattern are usually multifactorial. The index case is a 3-year-old male, whose family applied to the child psychiatry outpatient clinic due to failure to speak at 30 months.

View Article and Find Full Text PDF

Prenatal genetic investigation in pregnancies with oligohydramnios: Results from a single referral medical center.

Taiwan J Obstet Gynecol

November 2024

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China. Electronic address:

Objective: The aim of this study was to investigate the value of genetic testing using exome sequencing (ES) in oligohydramnios pregnancies with or without other structural abnormalities.

Materials And Methods: A total of 110 singleton pregnancies complicated by oligohydramnios were enrolled, including 52 of isolated oligohydramnios and 58 of non-isolated oligohydramnios. All fetal samples were first tested by quantitative fluorescent polymerase chain reaction (QF-PCR) and followed by chromosomal microarray analysis (CMA).

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!