Identification of an Interstitial Deletion in an Adult Female with Schizophrenia, Mental Retardation, and Dysmorphic Features: Further Support for a Putative.

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Identification of an Interstitial Deletion in an Adult Female with Schizophrenia, Mental Retardation, and Dysmorphic Features: Further Support for a Putative Schizophrenia- Susceptibility Locus at 5q21-23.1 Robin L. Bennett, Maria Karayiorgou, Christina A. Sobin, Tom H. Norwood, Mark A. Kay The American Journal of Human Genetics Volume 61, Issue 6, Pages 1450-1454 (December 1997) DOI: 10.1086/301634 Copyright © 1997 The American Society of Human Genetics Terms and Conditions

Figure 1 Dysmorphic, mentally retarded, 34-year-old woman with schizophrenia. The photograph shows the facial dysmorphisms, including downward-slanting palpebral fissures, ptosis, narrow nasal bridge, low-set ears, wide neck with low posterior hairline, and tapered fingers. The American Journal of Human Genetics 1997 61, 1450-1454DOI: (10.1086/301634) Copyright © 1997 The American Society of Human Genetics Terms and Conditions

Figure 2 Molecular analysis of the 5q22-23.2 hemizygous deletion in a patient with schizophrenia. Microsatellite markers from the region for which the parents were informative are indicated. An abnormal pattern of allele inheritance in the proband was determined. For all markers, the gel order is as follows: mother (lane 1), proband (lane 2), and father (lane 3). A plus sign (+) indicates the presence of two alleles, and a minus sign (−) indicates the absence of one allele. For markers D5S639, D5S471, D5S622, D5S804, and D5S642, the proband failed to inherit a parental allele (the paternal allele). A normal pattern of inheritance for markers D5S656, D5S489, IRF1, and D5S500 indicated that these markers are located outside the deletion. The arrows indicate the deletion boundaries. Marker D5S804, which has been linked to schizophrenia (Straub et al. 1997), has been shown to map within the deletion. A detailed map of the IL-4 cytokine-gene cluster (Marsh et al. 1994), which could be considered a candidate for schizophrenia, also is presented. We were not able to determine if the genes proximal to IRF1 (namely, IL-13, IL-4, and IL-5) are included in the deletion, since the parents were not informative for the IL-4 marker. The American Journal of Human Genetics 1997 61, 1450-1454DOI: (10.1086/301634) Copyright © 1997 The American Society of Human Genetics Terms and Conditions