دورية أكاديمية
22q13 deletion syndrome.
| العنوان: | 22q13 deletion syndrome. |
|---|---|
| المؤلفون: | Phelan MC; Greenwood Genetic Center, Greenwood, South Carolina, USA.phelank@erlanger.org, Rogers RC, Saul RA, Stapleton GA, Sweet K, McDermid H, Shaw SR, Claytor J, Willis J, Kelly DP |
| المصدر: | American journal of medical genetics [Am J Med Genet] 2001 Jun 15; Vol. 101 (2), pp. 91-9. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: New York, NY : Wiley-Liss Original Publication: New York, Liss 1977-2002. |
| مواضيع طبية MeSH: | Chromosome Deletion*, Chromosomes, Human, Pair 22/*genetics, Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Adolescent ; Adult ; Child ; Child, Preschool ; Developmental Disabilities/genetics ; Family Health ; Female ; Humans ; Infant ; Intellectual Disability/genetics ; Karyotyping ; Male ; Syndrome ; Translocation, Genetic |
| مستخلص: | We have recently collected clinical information on 37 individuals with deletion of 22q13 and compared the features of these individuals with 24 previously reported cases. The features most frequently associated with this deletion are global developmental delay, generalized hypotonia, absent or severely delayed speech, and normal to advanced growth. Minor anomalies include dolicocephaly, abnormal ears, ptosis, dysplastic toenails, and relatively large hands. As with many terminal deletions involving pale G-band regions, the deletion can be extremely subtle and can go undetected on routine cytogenetic analysis. In fact, 32% of the individuals in our study had previous chromosome analyses that failed to detect the deletion. Eight of 37 individuals had deletion of 22q13 secondary to an unbalanced chromosome translocation. In the newborn, this deletion should be considered in cases of hypotonia for which other common causes have been excluded. In the older child, this syndrome should be suspected in individuals with normal growth, profound developmental delay, absent or delayed speech, and minor dysmorphic features. We recommend high-resolution chromosome analysis and fluorescence in situ hybridization studies, or molecular analysis to exclude this diagnosis. (Copyright 2001 Wiley-Liss, Inc.) |
| تواريخ الأحداث: | Date Created: 20010608 Date Completed: 20010712 Latest Revision: 20190906 |
| رمز التحديث: | 20240829 |
| DOI: | 10.1002/1096-8628(20010615)101:2<91::aid-ajmg1340>3.0.co;2-c |
| PMID: | 11391650 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 0148-7299 |
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| DOI: | 10.1002/1096-8628(20010615)101:2<91::aid-ajmg1340>3.0.co;2-c |