Posterior fossa malformations and sex chromosomes anomalies. Report of a case with XYY syndrome and overview of known associations

European Journal of Pediatrics

Volumn 172, Issue 9, 2013, Pages 1267-1270

  Ulgiati, Fiorenza ^a   Nicita, Francesco ^a   Papetti, Laura ^a   Ursitti, Fabiana ^a   Di Maggio, Annalisa ^a   Tarani, Luigi ^a   Spalice, Alberto ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Brain radiological imaging; Posterior fossa malformations; Sex chromosomes anomalies; XYY syndrome

Indexed keywords

BRAIN MALFORMATION; CASE REPORT; CEREBELLUM VERMIS; HEMISPHERE; HUMAN; KARYOTYPE 47,XYY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; POSTERIOR FOSSA; PRIORITY JOURNAL; REVIEW; SEX CHROMOSOME ABERRATION;

ABNORMALITIES, MULTIPLE; CEREBELLUM; HUMANS; INFANT; INFANT, NEWBORN; MALE; SEX CHROMOSOME DISORDERS; XYY KARYOTYPE;

EID: 84892820256     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-013-2039-y     Document Type: Review

References (10)

1. Austin GE, Sparkes RS (1980) Abnormal cerebral cortical convolutions in an XYY fetus. Hum Genet 56(2):173-175
2. Bryant DM, Hoeft F, Lai S, Lackey J, Roeltgen D, Ross J, Reiss AL (2012) Sex chromosomes and the brain: a study of neuroanatomy in XYY syndrome. Dev Med Child Neurol 54(12):1149-1156
3. Hakola HP, Iivanainen M (1978) Pneumoencephalographic and clinical findings of the XYY syndrome. Acta Psychiatr Scand 58(4):360-370
4. Krossnes BK, Wester K, Moen G, Mørk SJ (2005) Multifocal dysembryoplastic neuroepithelial tumour in a male with the XYY syndrome. Neuropathol Appl Neurobiol 31(5):556-560
5. Lalatta F, Folliero E, Cavallari U, Di Segni M, Gentilin B, Fogliani R, Quagliarini D, Vizziello P, Monti F, Gargantini L (2012) Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior. Ital J Pediatr 38:52
6. Lenroot RK, Lee NR, Giedd JN (2009) Effects of sex chromosome aneuploidies on brain development: evidence from neuroimaging studies. Dev Disabil Res Rev 15(4):318-327
7. Maymon R, Herman A, Reish O (2002) Brain anomalies associated with 47, XYY karyotypes detected on a prenatal scan. Prenat Diagn 22(6):490-492
8. Ramaekers VT, Heimann G, Reul J, Thron A, Jaeken J (1997) Genetic disorders and cerebellar structural abnormalities in childhood. Brain 120(Pt 10):1739-1751
9. Ross JL, Zeger MP, Kushner H, Zinn AR, Roeltgen DP (2009) An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. Dev Disabil Res Rev 15(4):309-317
10. Warwick MM, Doody GA, Lawrie SM, Kestelman JN, Best JJ, Johnstone EC (1999) Volumetric magnetic resonance imaging study of the brain in subjects with sex chromosome aneuploidies. J Neurol Neurosurg Psychiatry 66(5):628-632