Neuropsychiatry of 18q- syndrome

Mahr, Richard N.; Moberg, Paul J.; Overhauser, Joan; Strathdee, Gordon; Kamholz, John; Loevner, Laurie A.; Campbell, H. L.; Zackai, Elaine H.; Reber, Mark; Mozley, David; Brown, Lawrence W.; Turetsky, Bruce I.; Shapiro, Raymond M.

doi:10.1002/(sici)1096-8628(19960409)67:2<172::aid-ajmg7>3.0.co;2-u

Cited by 33 publications

(21 citation statements)

References 16 publications

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“…Majority of the reported cases with autism involve deletion of 18q [70-72]. A deletion of the 18p-arm (at band 11.3) in about 50% cells and 50% of the cells with a duplication of the long arm in peripheral blood was described in a mildly obese girl with DSM-III-R autistic disorder and moderate mental retardation [73].…”

Section: Discussionmentioning

confidence: 99%

Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder

Reddy¹

2005

BMC Med Genet

180

123

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Background: Autism is a behavioral disorder with impaired social interaction, communication, and repetitive and stereotypic behaviors. About 5-10 % of individuals with autism have 'secondary' autism in which an environmental agent, chromosome abnormality, or single gene disorder can be identified. Ninety percent have idiopathic autism and a major gene has not yet been identified. We have assessed the incidence of chromosome abnormalities and Fragile X syndrome in a population of autistic patients referred to our laboratory.

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Section: Discussionmentioning

confidence: 99%

Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder

Reddy¹

2005

BMC Med Genet

180

123

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“…Multiple rib and vertebral segmentation defects have recently been reported in a child with 18q22.2-qter deletion by Dowton et al (1997). Strathdee et al (1995), Mahr et al (1996) and KohonenCorish et al (1996) have emphasized the clinical variability among 18q deletion patients; apparently there was no correlation between the size (or parental origin) of the deleted segment and the severity of the resulting phenotype. The presence in our patients of clinical findings that had previously been described in patients with chromosome 18q deletions could further support the notion that the critical region for the 18q-syndrome is probably located in the most distal portion of 18q.…”

Section: Discussionmentioning

confidence: 99%

Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion

et al. 1998

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We report on newborn monozygotic twins with a Noonan-like phenotype, and multiple congenital anomalies due to a monocentric recombinant chromosome 18. The mother carried a paracentric inversion of the long arm of chromosome 18, inv(18)(q21.1q22.3). Cytogenetic, fluorescent in situ hybridization, comparative genomic hybridization and DNA marker analyses allowed the delineation of the deleted (18q22.3-qter) and duplicated (18q12.1-q21.1) chromosomal regions in the recombinant chromosome 18, and suggest that this duplication-deletion chromosome 18 resulted from breakage of a dicentric recombinant chromosome 18 with subsequent reconstitution of telomeric sequences on the long arm. Marked variability is observed in the phenotypic expression of the same chromosomal anomaly in these monozygotic twins. The clinical findings of these patients are compared with those reported in proximal 18q-duplication and distal 18q-deletion patients. The clinical features of both infants are compatible with Noonan syndrome, suggesting that a locus for this syndrome may be located on the long arm of chromosome 18.

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“…The specific pattern found in our patient, i.e., some severely impaired non-verbal, but wellpreserved verbal functions, is not characteristic for 18q) syndrome that is usually associated with general cognitive deficits across all subtests of neuropsychological testing (9). Neuropsychological testing estimated the patient's full-scale IQ to be within the lower normal range (IQ ¼ 74).…”

Section: Discussionmentioning

confidence: 59%