Bilateral periventricular nodular heterotopia, severe learning disability, and epilepsy in a male patient with 46,XY,der(19)t(X;19) (q11.1-11.2;p13.3)

Developmental Medicine and Child Neurology

Volumn 49, Issue 3, 2007, Pages 219-224

  Balci, Sevim ^a,c   Unal, Aysun ^a   Engiz, Ozlem ^a   Aktas, Dilek ^a   Liehr, Thomas ^b   Gross, Madelaine ^b   Mrasek, Kristin ^b   Saygi, Serap ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b Institute of Human Genetics and Anthropology   (Germany)

^c NONE   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

FOLLITROPIN; LUTEINIZING HORMONE; PHENOBARBITAL; PHENYTOIN; TESTOSTERONE;

ADULT; ARTICLE; AUTOMUTILATION; BACTERIAL ARTIFICIAL CHROMOSOME; BACTERIOPHAGE P1 ARTIFICIAL CHROMOSOME; CASE REPORT; CHROMOSOME 19P; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME TRANSLOCATION; CHROMOSOME TRANSLOCATION 19; CHROMOSOME TRANSLOCATION X; CHROMOSOME XQ; CLINICAL FEATURE; CLINODACTYLY; CRYPTORCHISM; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; ECHOGRAPHY; EPILEPSY; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLITROPIN BLOOD LEVEL; FOLLOW UP; GENE LOCATION; GENETIC ASSOCIATION; GYNECOMASTIA; HETEROTOPIA; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; KARYOTYPE; KLINEFELTER SYNDROME; LEARNING DISORDER; LUTEINIZING HORMONE BLOOD LEVEL; MALE; MICROGNATHIA; MICROPENIS; MICROTIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OBESITY; PERIVENTRICULAR NODULAR HETEROTOPIA; PRIORITY JOURNAL; SCANTY HAIR; SEIZURE; TESTOSTERONE BLOOD LEVEL; X CHROMOSOME INACTIVATION; X CHROMOSOME RECESSIVE INHERITANCE; BRAIN; CELL MOTION; CHROMOSOME ABERRATION; CONGENITAL MALFORMATION; GENETICS; NERVE CELL; NERVOUS SYSTEM MALFORMATION; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; SYNDROME; X CHROMOSOME LINKED DISORDER;

ADULT; BRAIN; CELL MOVEMENT; CHROMOSOME ABERRATIONS; EPILEPSY; GENETIC DISEASES, X-LINKED; HUMANS; LEARNING DISORDERS; MALE; NERVOUS SYSTEM MALFORMATIONS; NEURONS; PEDIGREE; SYNDROME;

EID: 34047260547     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2007.00219.x     Document Type: Article

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