American journal of medical genetics. Part A
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Am. J. Med. Genet. A · Feb 2011
Biography Historical ArticleIn memoriam Ihsan Dogramaci (1915-2010).
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Am. J. Med. Genet. A · Jan 2011
Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.
A relatively small region of human chromosome 21 (Hsa21) is considered to play a major role in Down syndrome (DS) phenotypes, and the concept of a Down syndrome critical region (DSCR) has been proposed. The goal of the phenotype-genotype correlation study is to discover which genes are responsible for each DS phenotype. Loss of the genomic copy numbers of Hsa21 can give us important suggestion to understand the functions of the involved genes. ⋯ Two of the patients had mosaic deletions of 21q22-qter including a part of DSCR; one of whom whose mosaic ratio was higher than the other showed more severe brain morphogenic abnormality with colpocephaly, which was similar to the previously reported patients having pure deletions of 21q22-qter, indicating the critical region for cortical dysplasia at this region. The remaining patient had the smallest microdeletion with 480 kb in DSCR including DYRK1A and KCNJ6. Although we could not identify any nucleotide alteration in DYRK1A and KCNJ6 in our cohort study for 150 patients with mental retardation with/without epilepsy, this study underscores the clinical importance of DSCR not only for DS but also for developmental disorders.
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Am. J. Med. Genet. A · Sep 2010
Long-term parental psychological distress among parents of children with a malformation--a prospective longitudinal study.
We previously reported that prenatal diagnosis of malformations is associated with increased parental psychological distress after birth compared to distress in parents with postnatal diagnosis. We have now extended our earlier study to include a long-term follow-up of mothers and fathers 9 years after birth. Psychological responses were measured by General Health Questionnaire (GHQ-28), State Anxiety Inventory (STAI-X1), and Impact of Event Scale (IES) in 118 mothers and 100 fathers of 124 children with malformations 0-7 days (T1), 6 weeks (T2), 6 months (T3), and 9 years postpartum (T4). ⋯ This study shows that prenatal diagnosis is associated with significantly increased psychological distress in the acute postnatal phase. However, there was no long-term increase in psychological distress among parents with prenatal foreknowledge of their child's malformation. The significantly increased intrusive stress at 9-year follow-up might reflect long-term challenges related to having a child with a malformation.
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Am. J. Med. Genet. A · Jun 2010
Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae.
Existing nomenclature systems for describing and reporting congenital segmentation defects of the vertebrae (SDV) are confusing, inconsistently applied, and lack molecular genetic advances. Our aim was to develop and assess a new classification system for SDV. A multidisciplinary group of the International Consortium for Vertebral Anomalies and Scoliosis (ICVAS) developed a new classification system for SDV, and 5 members group (Group 1) independently classified 10 previously unseen cases using this system. ⋯ For Group 2, before the ICVAS system was explained, 1 of 70 scores (1.4%) agreed with the Group 1 consensus diagnoses; Group 2 offered 12 different diagnoses, but 38 of 70 (54.3%) responses were "Don't Know." After the ICVAS system was explained, 47 of 70 responses (67.1%; 95% CI 55.5, 77.0) agreed with the Group 1 consensus, an improvement of 65.7% (95% CI 52.5, 75.6, P < 0.00005), with no "Don't Know" responses. Group 2 average reporting times, before and after explanation of the ICVAS system, were 148 and 48 min, respectively. We conclude that the ICVAS radiological classification system was found to be reliable and applicable for 10 SDV phenotypes.