of Science and CINAHL employing keywords "genetic diagnosis delivery," "genetic diagnosis disclosure," "sex chromosome aneuploidy," "Klinefelter syndrome" or ""47, XXY," "Jacob syndrome" or "47, XYY," "TrisomyX," "Triple X" or "47, XXX," and "48 XXYY from January 1, 2000, to October 31, 2023. Literature supports that patients and parents value the provision of up-to-date information and connection
How do genetic tests answer questions about neurodevelopmental differences? A sociological take. When it comes to neurodevelopmental differences, a genetic test result can provide compelling answers. However, it is not always clear what the relevant question is. If we want to understand the impact of a genetic diagnosis such as NGLY1 deficiency or the fragile X, trisomyX, or 22q11.2 deletion
the clinical application of NIPT. A 34-year-old primigravida woman who underwent NIPT at 16 + 3 weeks' gestation was identified as being at high risk for fetal trisomyX (47, XXX). Fetal cardiac defect and hand posture were observed during prenatal ultrasound examination at the 23rd week of gestation. Amniocentesis conducted at the 24th week of gestation. Fetal karyotyping and FISH identified karyotype 48
there is primary amenorrhoea. The karyotype is XY but there is androgen insensitivity.XXY, or Klinefelter's syndrome, appears as a male.The XXX karyotype - this is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. While fertility in women with trisomyX is generally considered normal, there is an increased risk for premature ovarian failure.Premature ovarian
, cytogenetic testing revealed 84 (37%) anomalies, including 68 typical aneuploidies (involving chromosomes 13, 18 or 21), six sex chromosome aneuploidies (four cases of monosomy X and two of trisomyX), three clinically relevant atypical chromosomal anomalies (one trisomy 22, one trisomy 21 mosaicism and one unbalanced translocation), five submicroscopic pathogenic variants and two cases with Noonan syndrome
that are expressed from the sex chromosomes interact with autosomal variants that usually have only mild effects. We predicted that the impact of an additional sex chromosome on neurodevelopment would depend on common autosomal variants involved in synaptic functions. We analysed data from 130 children with sex chromosome trisomies (SCTs: 42 girls with trisomyX, 43 boys with Klinefelter syndrome, and 45 boys
will be correlated with common autosomal variants involved in related synaptic functions. We describe here an analysis plan for testing this hypothesis using existing data. The analysis of genotype-phenotype associations will be conducted after this plan is published and peer-reviewed Neurodevelopmental data and DNA are available for 130 children with sex chromosome trisomies (SCTs: 42 girls with trisomyX, 43
mosaicism for one cell line with genome-wide maternal uniparental disomy and a second diploid cell line of biparental inheritance with trisomyX due to paternal isodisomy X. As expected for this constellation, we observed DNA methylation changes at all imprinted loci investigated. This report adds new information on phenotypic outcome of mosaic genome-wide maternal uniparental disomy leading to an extreme
X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased 47,XXX in Systemic Lupus Erythematosus and Sjögren’s Syndrome More than 80% of autoimmune disease predominantly affects females, but the mechanism for this female bias is poorly understood. We suspected that an X chromosome dose effect accounts for this, and we undertook this study to test our hypothesis that trisomyX (47,XXX
and their clinicians. Study 1 surveyed detailed qualitative data from focus groups of parents and affected young people with either TrisomyX or XYY (N=34 families). These data suggested that decisions to disclose were principally affected by the child's level of cognitive, social and emotional functioning. Parents reported that they were more likely to disclose when a child was experiencing difficulties. In Study 2
with 0.09% (N = 1/1079) of control subjects (p = 0.0057) and 0.07% (N = 6/8329) of a large published control cohort (p = 0.0004). Other notable findings include trisomyX, which was identified in 1.8% (N = 2/114) of female patients with AIS, and rearrangements of chromosome 15q11.2 and 16p11.2 that previously have been associated with spinal phenotypes. Finally, we report rare copy number variants
Undetected sex chromosome aneuploidy by chromosomal microarray. We report on a case of a female fetus found to be mosaic for Turner syndrome (45,X) and trisomyX (47,XXX). Chromosomal microarray analysis (CMA) failed to detect the aneuploidy because of a normal average dosage of the X chromosome. This case represents an unusual instance in which CMA may not detect chromosomal aberrations
resulting from the absence of one X chromosome are usually relatively minor (eg, in Turner syndrome Turner Syndrome In Turner syndrome, girls are born with one of their two X chromosomes partly or completely missing. Diagnosis is based on clinical findings and is confirmed by cytogenetic analysis. Treatment... read more ). Also, females with 3 X chromosomes ( trisomyX Other X Chromosome Anomalies About 1 /1000 apparently normal females has a 47,XXX (trisomyX) karyotype. Physical anomalies are rare. Menstrual irregularity and infertility sometimes occur. Affected girls may have mildly... read more ) are often physically and mentally normal; only one X chromosome of genetic material is fully active even if a female has > 2 X chromosomes (the extra X chromosomes are also partly inactivated). Uniparental