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These data suggested that in patients with clinical features similar to trisomy 18, especially with anomalies of the ears and/or reproductive malformations, double trisomy (48, XXX,+18) should be considered and karyotyping should be performed although it is a rare disease. The literature on 16 fetuses or infants with the 48, XXX,+18 were also reviewed. This case expands the spectrum of malformations reported in association with the double trisomy 48, XXX,+18. She presented with multiple dysmorphic features, including small for gestational age infant, flat nasal bridge, widely-spaced eyes, the left thumb deformities, flat facial profile, raised sternum, ventricular septal defect, the third lateral brain ventricle enlargement, and small liver. A 7-hour-old girl presented to our unit because of poor response after birth. However, the double trisomy 48, XXX,+18 is a rare chromosome abnormality. Jiang, Zi-Yan Wu, Xiao-Hui Zou, Chao-ChunĬhromosomal abnormality is a common cause of congenital anomalies, psychiatric disorders, and mental retardation. All rights reserved.ĭouble trisomy 48, XXX,+18 with multiple dysmorphic features. Maternal meiotic nondisjunction can cause autosomal trisomy, such as trisomy 13, 18, and 21, and parental meiotic nondisjunction or post-zygotic nondisjunction can cause sex chromosome trisomy, such as XXX (triple X syndrome), XXY (Klinefelter syndrome), and XYY ( XYY syndrome). Survival in Double Aneuploidy Involving Trisomy 18 and Sex Chromosome Trisomy: A Case Report of a 27-month-old Child and a Review of the Literature. However, the evidence base is slender, and further research is needed to ascertain the nature, severity, and causes of these difficulties in unselected samples. Individuals with SCTs are at risk of cognitive and behavioural difficulties. Within each group there was much variation. Less evidence was available for brain structure and for attention, social, and psychiatric outcomes. Nevertheless, most adults with SCTs lived independently. Males with XYY had normal-range IQs, but all three SCT groups ( XXX, XXY, and XYY) had marked difficulties in speech and language, motor skills, and educational achievement. Cognitive outcomes were poorest for females with XXX. Individuals with an additional X chromosome had mean IQs that were within broadly normal limits but lower than the respective comparison groups, with verbal IQ most affected. An additional 11 studies were included where cases had been identified for reasons other than neurodevelopmental concerns. We identified 35 articles on five neonatally identified samples that had adequate power for our review. The focus was on studies unbiased by clinical referral, with power of at least 0.69 to detect an effect size of 1.0. A bibliographic search identified English-language articles on SCTs.
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To review systematically the neurodevelopmental characteristics of individuals with sex chromosome trisomies (SCTs). Leggett, Victoria Jacobs, Patricia Nation, Kate Scerif, Gaia Bishop, Dorothy V M Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review. Interpretation Individuals with SCTs are at risk of cognitive and behavioural difficulties.
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Results We identified 35 articles on five neonatally identified samples that had adequate power for our review. Method A bibliographic search identified English-language articles on SCTs. LEGGETT, VICTORIA JACOBS, PATRICIA NATION, KATE SCERIF, GAIA BISHOP, DOROTHY V MĪim To review systematically the neurodevelopmental characteristics of individuals with sex chromosome trisomies (SCTs). Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review*