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Bilateral perisylvian polymicrogyria and chromosome 1 anomaly. 2007

Maria do Céu Ribeiro, and Susana Gama de Sousa, and Manuela Mota Freitas, and Inês Carrilho, and Isilda Fernandes
Pediatrics Department, S João Hospital, Porto, Portugal. mariadoceuribeiro@yahoo.co.uk

Polymalformative syndromes are always a clinical challenge for their complexity and sometimes for their rarity. Authors present the case of a girl with peculiar facies, macrocephaly, axial hypotonia, and severe development delay. Cerebral magnetic resonance showed polymicrogyria. Cytogenetics revealed a 46,XX,der(1)(qter-->p36.13::q42.3-->qter) karyotype. This is the third case described to date. Isolated partial deletions or trisomy, although rare, are more frequently reported. None of these genetic findings has ever been related with polymicrogyria. Molecular cytogenetic characterization was in this case of great value.

UI MeSH Term Description Entries
D007839 Functional Laterality Behavioral manifestations of cerebral dominance in which there is preferential use and superior functioning of either the left or the right side, as in the preferred use of the right hand or right foot. Ambidexterity,Behavioral Laterality,Handedness,Laterality of Motor Control,Mirror Writing,Laterality, Behavioral,Laterality, Functional,Mirror Writings,Motor Control Laterality,Writing, Mirror,Writings, Mirror
D008279 Magnetic Resonance Imaging Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques. Chemical Shift Imaging,MR Tomography,MRI Scans,MRI, Functional,Magnetic Resonance Image,Magnetic Resonance Imaging, Functional,Magnetization Transfer Contrast Imaging,NMR Imaging,NMR Tomography,Tomography, NMR,Tomography, Proton Spin,fMRI,Functional Magnetic Resonance Imaging,Imaging, Chemical Shift,Proton Spin Tomography,Spin Echo Imaging,Steady-State Free Precession MRI,Tomography, MR,Zeugmatography,Chemical Shift Imagings,Echo Imaging, Spin,Echo Imagings, Spin,Functional MRI,Functional MRIs,Image, Magnetic Resonance,Imaging, Magnetic Resonance,Imaging, NMR,Imaging, Spin Echo,Imagings, Chemical Shift,Imagings, Spin Echo,MRI Scan,MRIs, Functional,Magnetic Resonance Images,Resonance Image, Magnetic,Scan, MRI,Scans, MRI,Shift Imaging, Chemical,Shift Imagings, Chemical,Spin Echo Imagings,Steady State Free Precession MRI
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D001921 Brain The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM. Encephalon
D002658 Developmental Disabilities Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed) Child Development Deviations,Child Development Disorders,Child Development Disorders, Specific,Developmental Delay Disorders,Disabilities, Developmental,Development Disorders, Child,Child Development Deviation,Child Development Disorder,Development Deviation, Child,Development Deviations, Child,Development Disorder, Child,Developmental Delay Disorder,Developmental Disability,Deviation, Child Development,Disability, Developmental
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D002878 Chromosomes, Human, Pair 1 A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. Chromosome 1
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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