TY - JOUR
T1 - Molecular and Cytogenetic Analyses on Brazilian Youths with Pervasive Developmental Disorders
AU - Higino Estécio, Marcos Roberto
AU - Fett-Conte, Agnes Cristina
AU - Varella-Garcia, Marileila
AU - Fridman, Cíntia
AU - Silva, Ana Elizabete
N1 - Funding Information:
We thank Dr. Robert D. Nicholls for kindly providing the SNRPN exon 1 probe; Dr. Simone Secco da Rocha for psychiatric assessment of the patients; and Dr. Andrea B. C. Salles and Mr. Josué R. Santos for technical assistance. The study was sponsored by the Brazilian agencies CNPq, CAPES, and FUNDUNESP.
PY - 2002/2
Y1 - 2002/2
N2 - The Pervasive Developmental Disorders (PDDs) constitute a group of behavioral and neurobiological impairment conditions whose main features are delayed communicative and cognitive development. Genetic factors are reportedly associated with PDDs and particular genetic abnormalities are frequently found in specific diagnostic subgroups such as the autism spectrum disorders. This study evaluated cytogenetic and molecular parameters in 30 youths with autism or other PDDs. The fragile X syndrome was the most common genetic abnormality detected, presented by 1 patient with autism and 1 patient with PPD not-otherwise specified (PPD-NOS). One girl with PDD-NOS was found to have tetrasomy for the 15q11-q13 region, and one patient with autism exhibited in 2/100 metaphases an inv(7)(p15q36), thus suggesting a mosaicism 46,XX/46,XX,inv(7)(p15q36) or representing a coincidental finding. The high frequency of chromosomopathies support the hypothesis that PDDs may develop as a consequence to chromosomal abnormalities and justify the cytogenetic and molecular assessment in all patients with PDDs for establishment of diagnosis.
AB - The Pervasive Developmental Disorders (PDDs) constitute a group of behavioral and neurobiological impairment conditions whose main features are delayed communicative and cognitive development. Genetic factors are reportedly associated with PDDs and particular genetic abnormalities are frequently found in specific diagnostic subgroups such as the autism spectrum disorders. This study evaluated cytogenetic and molecular parameters in 30 youths with autism or other PDDs. The fragile X syndrome was the most common genetic abnormality detected, presented by 1 patient with autism and 1 patient with PPD not-otherwise specified (PPD-NOS). One girl with PDD-NOS was found to have tetrasomy for the 15q11-q13 region, and one patient with autism exhibited in 2/100 metaphases an inv(7)(p15q36), thus suggesting a mosaicism 46,XX/46,XX,inv(7)(p15q36) or representing a coincidental finding. The high frequency of chromosomopathies support the hypothesis that PDDs may develop as a consequence to chromosomal abnormalities and justify the cytogenetic and molecular assessment in all patients with PDDs for establishment of diagnosis.
KW - Cytogenetic analysis
KW - Fragile X
KW - Genetic factors
KW - PDD
KW - PDD-NOS
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U2 - 10.1023/A:1017952123258
DO - 10.1023/A:1017952123258
M3 - Article
C2 - 11916331
AN - SCOPUS:0036481198
SN - 0162-3257
VL - 32
SP - 35
EP - 41
JO - Journal of Autism and Developmental Disorders
JF - Journal of Autism and Developmental Disorders
IS - 1
ER -