Klinefelter's syndrome as a model of anomalous cerebral laterality: Testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray

Geschwind, Dan; Gregg, Jeffrey P.; Boone, Kyle Brauer; Karrim, Juliana; Pawlikowska-Haddal, Anna; Rao, Ercole; Ellison, Jay W.; Ciccodicola, Alfredo; D’Urso, Michele; Woods, Roger P.; Rappold, Gudrun; Swerdloff, Ronald S.; Nelson, Stanley F.

doi:10.1002/(sici)1520-6408(1998)23:3<215::aid-dvg7>3.0.co;2-x

Cited by 82 publications

(76 citation statements)

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“…14,16,22 These structures, along with the preferential thinning of motor cortex, may also contribute to impairment in the planning and integration of motor movements. 8,18 The areas of the motor strip in which cortical thinning is most prominent are the superior region, associated with control of the upper trunk and shoulders, a noted area of muscular weakness in XXY, and the left inferior region, associated with control of the anatomy involved in speech production such as the lips, jaw, and pharynx. 42 Dyspraxia in these areas has been hypothesized to con- (mL), Unadjusted and Adjusted for (1) TCV, (2) TCV and SES, and (3) TCV, SES, tribute to the language-learning disability of these XXY children.…”

Section: Discussionmentioning

confidence: 99%

“…9,15 Average range ability in nonverbal visual memory, also found to rely on intact parietal functioning, 45 has been found in XXY. 8 In addition, XXY males seem to have a strong preference for visual stimulation, often evident within the first months of life, while showing signs of deficits in auditory localization. 11 Among the Wechsler subtests, block design (particularly its spatialperception component), the subtest on which the XXY …”

Section: Discussionmentioning

confidence: 99%

“…The most frequently documented cognitive impairments, occurring in ϳ80% of those with XXY, are language-based learning disorders. [7][8][9][10][11][12] Graham et al 13 found that ϳ50% of boys with XXY were reading 1 or more grade levels below average for their age. Also common are disorders of executive function, 14,15 particularly difficulties with planning 12 and inhibitory control.…”

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XXY (Klinefelter Syndrome): A Pediatric Quantitative Brain Magnetic Resonance Imaging Case-Control Study

et al. 2007

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OBJECTIVE. An extra X chromosome in males (XXY), known as Klinefelter syndrome, is associated with characteristic physical, cognitive, and behavioral features of variable severity. The objective of this study was to examine possible neuroanatomical substrates of these cognitive and behavioral features during childhood and adolescence. METHODS. MRI brain scans were acquired for 42 XXY and 87 healthy XY age-matched control males. We compared these 2 groups on regional brain volumes and cortical thickness. RESULTS. Total cerebral volume and all lobar volumes except parietal white matter were significantly smaller in the XXY group, whereas lateral-ventricle volume was larger. Consistent with the cognitive profile, the cortex was significantly thinner in the XXY group in left inferior frontal, temporal, and superior motor regions. CONCLUSION. The brain-imaging findings of preferentially affected frontal, temporal, and motor regions and relative sparing of parietal regions are consistent with observed cognitive and behavioral strengths and weaknesses in XXY subjects.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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XXY (Klinefelter Syndrome): A Pediatric Quantitative Brain Magnetic Resonance Imaging Case-Control Study

et al. 2007

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“…For both disorders, researchers have postulated a role for genes on the pseudoautosomal region (PAR) of the X chromosome. The expression of these genes is thought to lead to cognitive deficits in both KS and TS, as well as signs of anomalous cerebral laterality found in both syndromes (Geschwind et al, 1998;Ross et al, 2000b). In the case of TS, the neurocognitive phenotype has been mapped to the distal Xp region of the PAR1 (Ross et al, 2000a), but a region for KS 844…”

Section: Discussionmentioning

confidence: 99%

Working memory and relational reasoning in Klinefelter syndrome

Fales

Knowlton

Holyoak

et al. 2003

J Int Neuropsychol Soc

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Klinefelter syndrome (KS) is a sex chromosome abnormality associated with male infertility and mild cognitive deficits. Individuals with KS have been reported to have impaired verbal ability, as well as deficits in executive function. To further understand the nature of their deficits, we assessed specific elements of frontal lobe function such as working memory and relational reasoning. Men with KS exhibited a deficit in a transitive inference task in which participants ordered a set of names based on a list of propositions about the relative heights of the people named. This deficit was present even for items in which the propositions were given in order, so a chaining strategy could be used. Men with KS are also impaired on the n-back task, which uses letters as stimuli. In contrast, these men performed as well as controls in nonverbal reasoning (Raven's Progressive Matrices). These results suggest that men with KS have intact nonverbal reasoning abilities, but that a difficulty in encoding verbal information into working memory may underlie their executive and linguistic impairments. (JINS, 2003, 9, 839-846.)

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“…Básicamente, esta técnica fue descrita como un método de análisis en la variación del numero de copias de ADN de alta resolución en la detección de enfermedades relacionadas con alteraciones genómicas (Pinkel 1998). Hay varios ejemplos que corroboran esta afirmación, como la comprobación de la dosis génica en el cromosoma X de una región pseudoautosomal mediante la utilización de un micromatriz de ADN para estudiar el síndrome Klinefelter como modelo de anomalía cerebral (Geschwind 1998 …”

Section: V1 Introducciónunclassified

Selección y caracterización de mutantes en Clementina. Cambios del transcriptoma asociados a la maduración del fruto de los cítricos y análisis de la expresión del gen fosfoenolpiruvato carboxiquinasa

González¹

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Selección y caracterización de mutantes de Clementina.Cambios del transcriptoma asociados a la maduración del fruto de los cítricos y análisis de la expresión del gen fosfoenolpiruvato carboxiquinasa. Manuel Talón Cubillo por su magnífica y extraordinaria labor en la dirección de esta tesis. Tengo que agradecerle la oportunidad y confianza en mí que en su día me dio para realizar la tesis doctoral bajo su dirección. Especial mención también para el Doctor Domingo J. Iglesias Fuente que es el principal causante de mi interés por este mundillo, con el que tantísimo he aprendido y que ha sido profesor y amigo por igual. Durante todo este periodo he aprendido de ellos muchísimos aspectos relacionados con la investigación pero tengo que destacar su gran calidad humana por encima de todo. A Lorenzo Zacarías y Aurelio Gómez agradecerles particularmente su tiempo e interés en la revisión del trabajo. TESIS DOCTORALAgradecer a Ramón Serrano su colaboración y ayuda en cualquiera de los trámites universitarios que he necesitado.Dar las gracias a Josep A.Roselló por permitir mi estancia en su laboratorio y especialmente a Marcela Rosato agradecerle su ayuda en la revisión del capitulo V y de quien profesionalmente he aprendido mucho pero sobre todo me ha enseñado a reír en la desesperanza.Por último pero no por ello menos importante, todo lo contrario, quisiera agradecer a mi familia: a mis padres y hermanos el apoyo y ánimo en todo lo que he necesitado y que han sido claves en el tramo final. Y muy muy especialmente agradecer a mi queridísimo Jose todo el cariño y apoyo que me ha dado y da día a día, ayudándome, animándome y respetándome en cualquier decisión que tomo porque él y nuestra pequeña Elena son pilares en mi vida.

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Klinefelter's syndrome as a model of anomalous cerebral laterality: Testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray

Cited by 82 publications

References 73 publications

XXY (Klinefelter Syndrome): A Pediatric Quantitative Brain Magnetic Resonance Imaging Case-Control Study

XXY (Klinefelter Syndrome): A Pediatric Quantitative Brain Magnetic Resonance Imaging Case-Control Study

Working memory and relational reasoning in Klinefelter syndrome

Selección y caracterización de mutantes en Clementina. Cambios del transcriptoma asociados a la maduración del fruto de los cítricos y análisis de la expresión del gen fosfoenolpiruvato carboxiquinasa

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