{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:43:23Z","timestamp":1764171803527},"reference-count":63,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":4117,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1993,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Monosomy for the X chromosome is the most frequent cause of Turner's syndrome, a common clinical syndrome associated with particular physical and neurobehavioral features. The results from comprehensive assessment of prepubertal monozygotic female twins discordant for X monosomy are presented. Zygosity was established with DNA Fingerprinting and no evidence of chromosomal mosaicism was seen in either child. Physical features in the affected twin were relatively mild with respect to the full spectrum of physical malformations and disabilities associated with Turner's syndrome. The neurobehavioral phenotypes of the twins were compared. Although both sisters scored in the superior range of intelligence, the affected twin's Performance IQ was 18 points less than her sister, whereas Verbal IQ showed only a 3\u2010point difference between the sisters. Other relative differences were noted within the executive, visuospatial, and visuomotor domains of function. Behavioral evaluation indicated greater problems with attention, hyperactivity, and anxiety in the affected twin. Quantitative analysis of brain anatomy revealed evidence of both general and regional effects of X monosomy on neurodevelopment. Cerebrospinal fluid volume was increased by 25% in the affected twin compared with her sister with a corresponding decrease in gray matter volume. The right frontal, right parietal\u2013occipital, and left parietal\u2010perisylvian regions showed the greatest discrepancy between the sisters with respect to increased cerebrospinal fluid and decreased gray matter volumes in the twin with X monosomy. Differences in the posterior fossa were also noted with a 50% relative increase in the volumes of the fourth ventricle and cisterna magna and a 10 to 15% relative reduction in size of the cerebellar vermis, pons, and medulla in the affected twin. The association between the neurobehavioral and neuroanatomical findings in the affected twin is discussed. The unique nature of the naturally occurring genetic phenomenon seen in this twin pair provides an opportunity to more fully elucidate the neurobehavioral phenotype associated with X monosomy and Turner's syndrome.<\/jats:p>","DOI":"10.1002\/ana.410340117","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:24:42Z","timestamp":1104539082000},"page":"95-107","source":"Crossref","is-referenced-by-count":72,"title":["The effects of X monosomy on brain development: Monozygotic twins discorcant for Turner's syndrome"],"prefix":"10.1002","volume":"34","author":[{"given":"Allan L.","family":"Reiss","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Freund","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie","family":"Plotnick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Baumgardner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathleen","family":"Green","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda C.","family":"Sozer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Reader","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corinne","family":"Boehm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martha B.","family":"Denckla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","volume-title":"Clinical pediatrics","author":"Lippe B","year":"1990"},{"key":"e_1_2_1_3_2","first-page":"183","article-title":"Physical and psychological parameters in children with sex chromosome anomalies: further follow up from the Winnipeg cytogenetic study of 14,069 newborn infants","volume":"22","author":"Evans JA","year":"1986","journal-title":"Birth Defects"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0010-9452(73)80037-1"},{"key":"e_1_2_1_5_2","first-page":"293","article-title":"Summary overview of behavioral development in individuals with neonatally identified X and Y aneuploidy","volume":"22","author":"Netley CT","year":"1986","journal-title":"Birth Defects"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-7138(09)60606-3"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005053-198904000-00002"},{"key":"e_1_2_1_8_2","volume-title":"Diagnosing learning disabilities: a neuropsychological approach","author":"Pennington BF","year":"1991"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/jpepsy\/16.5.585"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0005-8165(74)80022-3"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0010-9452(82)80001-4"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/path.1711150407"},{"key":"e_1_2_1_13_2","first-page":"119","article-title":"Cerebellar malformations: some pathogenetic considerations","volume":"16","author":"Urich H","year":"1979","journal-title":"Clin Exp Neurol"},{"key":"e_1_2_1_14_2","first-page":"49","article-title":"Neuropathology of the Turner syndrome","volume":"7","author":"Della Giustina E","year":"1985","journal-title":"Pediatr Med Chir"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.1987.tb02251.x"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370212"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1017\/S0317167100030341"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.1.6"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150403"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/316076a0"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(83)90418-9"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273073"},{"key":"e_1_2_1_23_2","first-page":"612","article-title":"Normal human genomic restriction\u2010fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA","volume":"43","author":"Darras BT","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_24_2","volume-title":"WISC\u2010R manual: Wechsler Intelligence Scale for Children\u2010Revised","author":"Wechsler D","year":"1974"},{"key":"e_1_2_1_25_2","volume-title":"The Woodcock\u2010Johnson Psycho\u2010educational Battery\u2010Tests of Achievement","author":"Woodcock RW","year":"1989"},{"key":"e_1_2_1_26_2","volume-title":"Innovations in clinical practice: a source book","author":"Conners CK","year":"1982"},{"key":"e_1_2_1_27_2","first-page":"305","article-title":"Rating scales to assess depression in school\u2010aged children","volume":"46","author":"Kovacs M","year":"1981","journal-title":"Acta Paedopsychiatry"},{"key":"e_1_2_1_28_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00919131"},{"key":"e_1_2_1_29_2","volume-title":"Vineland Adaptive Behavior Scales\u2010Interview Edition Survey Form Manual","author":"Sparrow SS","year":"1984"},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.2307\/1129640"},{"key":"e_1_2_1_31_2","doi-asserted-by":"publisher","DOI":"10.1097\/00004583-198709000-00007"},{"key":"e_1_2_1_32_2","volume-title":"NIH Image","author":"Rasband W","year":"1993"},{"key":"e_1_2_1_33_2","doi-asserted-by":"publisher","DOI":"10.1109\/TSMC.1979.4310076"},{"key":"e_1_2_1_34_2","doi-asserted-by":"publisher","DOI":"10.1001\/archpsyc.1992.01820030027004"},{"key":"e_1_2_1_35_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410290107"},{"key":"e_1_2_1_36_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-3956(91)90020-B"},{"key":"e_1_2_1_37_2","doi-asserted-by":"publisher","DOI":"10.1097\/00004728-198907000-00006"},{"key":"e_1_2_1_38_2","first-page":"245","volume-title":"Assessment of children","author":"Sattler JM","year":"1988"},{"key":"e_1_2_1_39_2","first-page":"129","article-title":"Preliminary report on macroscopic age changes in the human rosencephalon. A stereologic investigation","volume":"25","author":"Eggers R","year":"1984","journal-title":"J Hirnforsch"},{"key":"e_1_2_1_40_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1991.00530170103028"},{"key":"e_1_2_1_41_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(89)90061-5"},{"key":"e_1_2_1_42_2","first-page":"857","article-title":"Genomic imprinting: review and relevance to human diseases","volume":"46","author":"Hall JG","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_43_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01066000"},{"key":"e_1_2_1_44_2","doi-asserted-by":"publisher","DOI":"10.1002\/1097-4679(196210)18:4<403::AID-JCLP2270180404>3.0.CO;2-V"},{"key":"e_1_2_1_45_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130407"},{"key":"e_1_2_1_46_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7610.1991.tb00345.x"},{"key":"e_1_2_1_47_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0010-9452(85)80004-6"},{"key":"e_1_2_1_48_2","doi-asserted-by":"publisher","DOI":"10.1080\/01688638508401271"},{"key":"e_1_2_1_49_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1979.tb01581.x"},{"key":"e_1_2_1_50_2","volume-title":"Judgement of line orientation in contributions to neuropsychological assessment","author":"Benton AL","year":"1983"},{"key":"e_1_2_1_51_2","first-page":"95","article-title":"Childhood frontal lobe lesion and psychosocial development: patient DT","volume":"12","author":"Eslinger PJ","year":"1990","journal-title":"J Clin Exp Neuropsychol"},{"key":"e_1_2_1_52_2","doi-asserted-by":"publisher","DOI":"10.1080\/87565649109540497"},{"key":"e_1_2_1_53_2","doi-asserted-by":"publisher","DOI":"10.2466\/pms.1972.34.1.27"},{"key":"e_1_2_1_54_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005053-196602000-00007"},{"key":"e_1_2_1_55_2","doi-asserted-by":"publisher","DOI":"10.1037\/0012-1649.18.1.77"},{"key":"e_1_2_1_56_2","unstructured":"SonisWA Levine RossJ BlueJ et al .Hyperactivity and Turner's syndrome. American Academy of Child Psychiatry Meetings San Francisco CA 1983"},{"key":"e_1_2_1_57_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410260117"},{"key":"e_1_2_1_58_2","volume-title":"The frontal lobes","author":"Stuss DT","year":"1986"},{"key":"e_1_2_1_59_2","first-page":"279","article-title":"Neuroanatomy in fragile X females: the posterior fossa","volume":"49","author":"Reiss A","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_60_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091505"},{"key":"e_1_2_1_61_2","first-page":"683","volume-title":"Principles of neural science","author":"Ghez C","year":"1991"},{"key":"e_1_2_1_62_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(86)90815-2"},{"key":"e_1_2_1_63_2","volume-title":"Cerebellar and cortical involvement in processing temporal information in speech and non\u2010speech stimuli","author":"Ivry R","year":"1992"},{"key":"e_1_2_1_64_2","volume-title":"Cerebellar involvement in temporal sensory\u2010motor processing","author":"Llinas R","year":"1992"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410340117","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410340117","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T06:45:03Z","timestamp":1698216303000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410340117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,7]]},"references-count":63,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1993,7]]}},"alternative-id":["10.1002\/ana.410340117"],"URL":"https:\/\/doi.org\/10.1002\/ana.410340117","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,7]]}}}