DE NOVO INTERSTITIAL DELETION OF 9q32-34.1 WITH MENTAL RETARDATION, DEVELOPMENTAL DELAY, EPILEPSY, AND CORTICAL DYSPLASIA: A CASE REPORT

In this report we describe a 10 year-old female patient with interstitial deletion of 9q32-q34.1 associated with mental retardation, developmental delay, short stature, mild facial dysmorphism, epilepsy, abnormal EEG and brain MRI findings consistent with focal cortical dysplasia. Interstitial delet...

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Published inGenetic counseling Vol. 25; no. 2; pp. 197 - 201
Main Authors TOS, T, ALP, M. Y, KARACAN, C. D, ANDIRAN, N, COLAKOGLU, E. Y
Format Journal Article
LanguageEnglish
Published Genève Médecine & hygiène 01.01.2014
Éditions Médecine et Hygiène
Subjects
Adult and adolescent clinical studies
Biological and medical sciences
Child
Chromosome Deletion
Chromosomes, Human, Pair 9 - genetics
Developmental Disabilities - genetics
Epilepsy - genetics
Female
General aspects. Genetic counseling
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Intellectual deficiency
Intellectual Disability - genetics
Malformations of Cortical Development - genetics
Medical genetics
Medical sciences
Nervous system (semeiology, syndromes)
Neurology
Psychology. Psychoanalysis. Psychiatry
Psychopathology. Psychiatry
Human
Interstitial deletion 9q32-q34.1
Nervous system diseases
Dysplasia
Epilepsy
Developmental disorder
Mental retardation
Developmental delay
De novo
Cerebral disorder
Case study
Cortical dysplasia
Genetic counseling
Central nervous system disease
Intellectual deficiency
Deletion
Interstitial
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Summary:In this report we describe a 10 year-old female patient with interstitial deletion of 9q32-q34.1 associated with mental retardation, developmental delay, short stature, mild facial dysmorphism, epilepsy, abnormal EEG and brain MRI findings consistent with focal cortical dysplasia. Interstitial deletion of 9q associated with q32-q34 is found extremely rare. Common features of seven previously reported cases are mental retardation, developmental delay, short stature, a distinct cranial and facial phenotype (brachycephaly, low midface, low and prominent forehead, and low set malformed ears). Combination of epilepsy, abnormal EEG and brain MRI findings are not reported before.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
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ISSN:1015-8146