PubMed · 8809488
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M H Teicher. 1996. Developing models for developmental disorders.. https://pubmed.ncbi.nlm.nih.gov/8809488/
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Interstitial duplications of proximal 15q containing the Prader-Willi syndrome/Angelman syndrome (PWS/AS) region have been found in patients with autism or atypical autism. In these cases with an abnormal phenotype, the duplications were maternally derived. Paternal origin of the duplication has been associated with a normal phenotype. We report on a patient who presented with nonspecific developmental delay and partial agenesis of the rostral corpus callosum. Fluorescence in situ hybridization (FISH) studies using probes specific for the PWS/AS region demonstrated a double signal on one chromosome 15, indicating the presence of an interstitial duplication of proximal 15q involving the PWS/ AS region in the patient. Parental chromosomes were normal with FISH studies. Methylation analysis at exon alpha of the SNRPN locus showed a maternal band at 4.2 kb and a paternal band of apparent double intensity at 0.9 kb, suggestive of one copy of the maternal allele and two copies of the paternal allele in the patient. Microsatellite analysis was informative at the GABRB3 locus in the family, which showed the inheritance of two different paternal alleles and a maternal allele in the patient consistent with the origin of this duplication from an unequal crossing over between the two chromosome 15 homologs in the father. This is the first report of an abnormal phenotype associated with a paternally derived duplication of proximal 15q shown to contain the PWS/AS region by molecular techniques.
A Japanese male with mosaicism of ring chromosome 14 and chromosome 14 monosomy is described. He demonstrated the characteristic morphologic features of ring chromosome 14, in addition to mental retardation and epileptic seizures. Clusters of complex partial seizures, one of which originated in the left frontocentral region on electroencephalographic monitoring, were evident. His seizures responded to phenobarbital, and his mental and motor development was only mildly retarded. Magnetic resonance imaging revealed a hypoplastic corpus callosum, previously unknown in association with this syndrome.
PURPOSE: To establish the appearance of normal fetal cortical development in utero and compare it with the appearance of abnormal cortical development. MATERIALS AND METHODS: Magnetic resonance (MR) images of the brain in 53 normal and 40 abnormal fetuses at 14-38 weeks gestational age (GA) were reviewed. The GAs at the time of MR imaging visualization of the fissures or sulci were compared with the GA guidelines based on neuroanatomic studies. RESULTS: In normal fetuses, the sulcation landmarks appeared on MR images in the order predicted by using anatomic studies, with a 0-8-week lag in the MR imaging visualization of the sulci compared with the reported time of visualization of the sulci in anatomic specimens. When landmarks were grouped by range of GAs, the expected MR imaging sulcation landmarks in the group with younger GAs than the actual GA were seen in 50 of 53 (94%) normal fetuses, in five of nine fetuses (56%, P < .05) with isolated mild ventriculomegaly, and in 24 of 31 fetuses (77%, P < .05) with other CNS anomalies. CONCLUSION: Normal fetal cortical maturation at MR imaging follows a predictable course that is slightly delayed compared with that described in neuroanatomic specimens. This maturation is often further delayed in fetuses with CNS abnormalities.