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Genetic Counseling in Assisted Reproductive Technology
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Trisomy X is compatible with life and causes a genetic syndrome called Triple X syndrome. Triple X syndrome is common in the human population with an incidence of 1/1000 female births. Most pregnancies identified to have Triple X syndrome are able to develop to term. Triple X syndrome is not phenotypically recognizable at birth. Affected individuals may appear taller than average and have learning disabilities. Fertility is usually normal.
Sex Chromosome Anomalies
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
L. Hamerton John, A. Evans Jane
Sex chromosome aneuploidy has been shown to be relatively common. Males may have XXY or XYY karyotypes. Females may have trisomy X (47,XXX) or monosomy X (45,X). Individuals with four and five sex chromosomes have also been described, as well as individuals with sex chromosome mosaicism (e.g., 45,X/46,XX; 46,XY/47,XXY) or structural rearrangements of the X and Y chromosomes. Such abnormalities may result in infertility or hypogonadism, and perhaps lower intelligence, but usually cause little morbidity or mortality. The one exception is the 45,X karyotype that results in a 99% fetal loss during gestation (3).
Premature/Primary Ovarian Insufficiency (POI)
Published in S Paige Hertweck, Maggie L Dwiggins, Clinical Protocols in Pediatric and Adolescent Gynecology, 2022
Christina N. Davis-Kankanamge, Alla Vash-Margita
X chromosomal causesTurner syndrome (most common)45XOAdolescents will present with absent or delayed pubertyOvarian failure is due to accelerated atresia of the ovarian follicles45XO/46XX, mosaic patternProgressive loss of ovarian functionOvarian tissue cryopreservation may be considered in selected cases in experimental settingPOF1 in association with fragile X premutationTrisomy X with or without mosaicismXY chromosomal causes46XY gonadal dysgenesis46XX gonadal dysgenesisTrisomy 21
Crown heights in the permanent teeth of 47,XXY males and 47,XXX females
Published in Acta Odontologica Scandinavica, 2022
Raija Pentinpuro, Raija Lähdesmäki, Paula Pesonen, Lassi Alvesalo
Trisomy X, or 47,XXX (a female with one additional X chromosome), is the most common female chromosomal variant [6], occurring in approximately 1 in 1000 female births [7]. The most frequent karyotype (90%) is 47,XXX [7], and the most common physical features include tall stature (above the 75th percentile for height) [8], epicanthal folds, hypotonia and clinodactyly [9]. These individuals exhibiting aneuploidy typically have long legs, with a short sitting height [10]. Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities [6], and they also have fertility problems, presumably as a consequence of premature ovarian failure.
Prenatal diagnosis of double trisomy 48, XXX, +18; case report
Published in Journal of Obstetrics and Gynaecology, 2018
Fedi Ercan, Pelin Taşdemir, Aybike Tazegül Pekin, Berkan Sayal, Hüseyin Görkemli, Ali Acar
In the present case, the infant had typical trisomy 18 features. In contrast, trisomy X in isolation has not been reported in association with increased structural defects because this condition lacks specific phenotypic manifestations in the foetus (Gonen et al. 1995). Therefore, the primary sonographic features of DT 48, XXX, +18 depend on the trisomy 18 complement. In the present case, it appeared that the extra X chromosome had not contributed to any phenotypic abnormalities in the infant. This is consistent with the findings of other studies that triple-X females are phenotypically normal.
Manifestations of systemic lupus erythematosus in female patients with polysomy X: Possible roles of chromosome X
Published in Modern Rheumatology, 2019
Taro Iwamoto, Masanori Fujimoto, Kei Ikeda, Aiko Saku, Sohei Makita, Shunsuke Furuta, Timothy B. Niewold, Hiroshi Nakajima
Trisomy X syndrome is characterized by the presence of an additional X-chromosome, affecting about 1 in 1000 females. Most of females with trisomy X have no symptoms or only mild symptoms [12]. Indeed, no specific features of trisomy X syndrome, such as apparent abnormalities or delayed development were observed in our case.