Familial distal monosomy 3p26.3‐pter with trisomy 4q32.2‐qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features

We present a boy diagnosed with partial 3p monosomy and partial 4q trisomy. The patient was 9 years of age with intellectual disability, dysmorphic features, and ataxia. A family history and medical evaluation showed that the father manifested similar facial dysmorphic features, intellectual disabil...

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Bibliographic Details
Published in:	American journal of medical genetics. Part A Vol. 158A; no. 6; pp. 1442 - 1446
Main Authors:	Petriczko, Elzbieta, Biczysko‐Mokosa, Agnieszka, Bogdanowicz, Joanna, Constantinou, Maria, Zdziennicka, Elzbieta, Horodnicka‐Jozwa, Anita, Barg, Ewa, Gawlik‐Zawislak, Sylwia, Sulek‐Piatkowska, Anna, Dawid, Grazyna, Walczak, Mieczysław, Pesz, Karolina, Kedzia, Andrzej, Zajaczek, Stanislaw
Format:	Journal Article
Language:	English
Published:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-06-2012 Wiley-Liss Wiley Subscription Services, Inc
Subjects:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Adult and adolescent clinical studies Age ataxia Ataxia - diagnosis Ataxia - genetics Biological and medical sciences Child Child, Preschool Chromosome aberrations Chromosome Deletion Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 4 Comparative Genomic Hybridization Humans Intellectual deficiency Intellectual Disability - diagnosis Intellectual Disability - genetics Karyotyping Male Medical genetics Medical sciences Nervous system (semeiology, syndromes) Nervous system as a whole Neurology partial monosomy 3p partial trisomy 4q Pedigree Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry Trisomy Chromosomal aberration Genetic mapping Handicap Nervous system diseases Partial trisomy Family study partial trisomy 4q Developmental disorder Mental retardation Partial monosomy Cerebral disorder Progressive partial monosomy 3p Dysmorphism Malformation Distal Central nervous system disease Intellectual deficiency Abnormal chromosome Ataxia Neurological disorder Inaugural sign
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