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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Deletion of the short arm of chromosome 18 provides a highly variable phenotype. Mental retardation, short stature, and abnormal facies are invariably present. About 9 percent of patients with this syndrome have cardiac pathology. An additional case with congenital heart disease has been presented along with a review of the literature concerning the association of congenital heart disease and the 18p- syndrome.
Del Med J 1991 May
PMID:Heart disease associated with deletion of the short arm of chromosome 18. 186 May 15

Del(3)(p25pter) is associated with a characteristic multiple congenital anomalies/mental retardation syndrome. Early recognition of these manifestations and identification of the chromosome defect are essential for proper management and counseling.
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PMID:Two infants with del(3)(p25pter) and a review of previously reported cases. 238 10

The Delaware Disabilities Prevention Program is funded through a five-year Centers for Disease Control and Prevention (CDC) grant to prevent primary and secondary disabilities associated with mental retardation and low socioeconomic status; head and spinal cord injuries; and sickle cell disease. This report focuses on fatal head and spinal cord injuries. Death certificates and autopsy reports from 1990 were the data sources used for this study. In 1990, 122 fatal head injuries and 20 fatal spinal cord injuries occurred among Delaware residents. Eight of these individuals experienced both head and spinal cord injuries. Motor vehicle crashes caused the majority of both head and spinal cord deaths. Suicides, homicides, and falls were the other major causes of fatal head injuries. Deaths are only the tip of the injury iceberg. Head and spinal cord injuries can cause lifelong disabilities affecting family, friends, and the entire community.
Del Med J 1993 Jul
PMID:Fatal injury surveillance report, Delaware, 1990. Head and spinal cord injuries. 835 17

The 3q29 microdeletion syndrome (del 3q29) is a novel genomic disorder identified after the introduction of microarray-based technology. The phenotype of the reported patients is variable, including mental retardation and subtle facial anomalies. We report on two mother-daughter pairs, heterozygous for 3q29, and review clinical features of all known affected individuals. Del 3q29 syndrome is associated with nonspecific clinical features, including mild-to-moderate developmental delay, microcephaly, and mild facial dysmorphisms such as short philtrum and high nasal bridge. Facial anomalies were nonoverlapping and nondistinct, also within each mother-daughter pair. Parental transmission of del 3q29 could be more frequent than previously considered. Malformations are rare, occurring only in single subjects. The phenotypic diversity of affected patients and the lack of distinct dysmorphisms suggest that this disorder cannot be recognized on clinical ground alone. Del 3q29 should be searched in subjects with unexplained mild/moderate mental retardation, microcephaly, and minor nonspecific facial anomalies.
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PMID:3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs. 1961 Jan 15