TY - JOUR
T1 - Autism, mental retardation, and chromosomal abnormalities
AU - Mariner, Robin
AU - Jackson, Alfred W.
AU - Levitas, Andrew
AU - Hagerman, Randi J
AU - Braden, Marcia
AU - McBogg, Pamela M.
AU - Smith, Ann C M
AU - Berry, Rebecca
PY - 1986/12
Y1 - 1986/12
N2 - There are reports of sex chromosomal abnormalities including XXY, XYY, and fragile X karyotypes in autistic individuals, but structural autosomal defects have rarely been reported. This paper presents four patients with autism, mental retardation, minor dysmorphic features, and structural autosomal defects. These patients shared autistic features including fascination with inanimate objects, catastrophic reactions to changes in their environment or their daily routine, echolalia, and poor relatedness; IQ scores indicate mild to severe retardation. Their autosomal abnormalities included inversion/duplications of 3p and 16q, 5p+, and 17p-. Parental chromosomes were all normal. Chromosomal analysis should be performed on mentally retarded, autistic individuals, especially those with minor physical anomalies and no specific etiology for their retardation.
AB - There are reports of sex chromosomal abnormalities including XXY, XYY, and fragile X karyotypes in autistic individuals, but structural autosomal defects have rarely been reported. This paper presents four patients with autism, mental retardation, minor dysmorphic features, and structural autosomal defects. These patients shared autistic features including fascination with inanimate objects, catastrophic reactions to changes in their environment or their daily routine, echolalia, and poor relatedness; IQ scores indicate mild to severe retardation. Their autosomal abnormalities included inversion/duplications of 3p and 16q, 5p+, and 17p-. Parental chromosomes were all normal. Chromosomal analysis should be performed on mentally retarded, autistic individuals, especially those with minor physical anomalies and no specific etiology for their retardation.
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U2 - 10.1007/BF01531709
DO - 10.1007/BF01531709
M3 - Article
C2 - 3542957
AN - SCOPUS:0022863056
VL - 16
SP - 425
EP - 440
JO - Journal of Autism and Developmental Disorders
JF - Journal of Autism and Developmental Disorders
SN - 0162-3257
IS - 4
ER -