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

We studied the effects of maternal phenylketonuria and hyperphenylalaninemia on 53 offspring from untreated pregnancies in 22 mothers who were identified by routine screening of umbilical-cord blood. The IQ of the offspring was significantly correlated with both maternal IQ (r = 0.83, P less than 0.001) and maternal blood phenylalanine level (r = 0.82, P less than 0.001), but with one exception, mental retardation in offspring was present only when the maternal blood phenylalanine level exceeded 1100 mumol per liter (18 mg per deciliter). Microcephaly in offspring was consistently present only when the maternal blood phenylalanine level exceeded 1200 mumol per liter (20 mg per deciliter). Congenital heart disease and other congenital anomalies were rare among offspring. The data suggest that severe atypical or classic phenylketonuria (blood phenylalanine level, greater than 1100 mumol per liter) in the mother has a substantial cognitive effect on her offspring but that the effect of mild hyperphenylalaninemia may have been overstated in the past.
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PMID:Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. 663 85

The acronym DOOR was first used by Cantwell in 1975 to describe a syndrome comprising sensorineural deafness, osteodystrophy, onychodystrophy, and mental retardation. To date, 16 cases of the syndrome have been documented in the literature. We present two sisters who died in early infancy with the clinical features of DOOR syndrome, both of whom in addition had cardiac defects and urinary tract abnormalities. Both infants had the classical clinical features of sensorineural deafness, seizures, hypoplastic nails, finger-like thumbs, and the characteristic facies of the syndrome. Autopsy in each case revealed the additional findings of a membranous ventricular septal defect and a septum secundum atrial septal defect. The first child had left-sided hydronephrosis and hydroureter, and the second sibling had bilateral hydronephrosis, hydroureter, and dilatation of the bladder. Congenital heart disease and renal abnormalities have not to our knowledge been previously described in association with the DOOR syndrome.
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PMID:Congenital heart disease and urinary tract abnormalities in two siblings with DOOR syndrome. 780 78

Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterised by low birth weight, mental retardation, telecanthus, ptosis, and micrognathia. Congenital heart disease (CHD), typically atrioventricular septal defect (AVSD), occurs in about a third of patients. In total, approximately 25 cases of 3p- syndrome have been reported world wide. We previously analysed five cases and showed that (1) the 3p25-pter deletions were variable and (2) the presence of CHD correlated with the proximal extent of the deletion, mapping a CHD gene centromeric to D3S18. To define the molecular pathology of the 3p- syndrome further, we have now proceeded to analyse the deletion region in a total of 10 patients (five with CHD), using a combination of FISH analysis and polymorphic markers, for up to 21 loci from 3p25-p26. These additional investigations further supported the location of an AVSD locus within 3p25 and refined its localisation. Thus, the critical region was reduced to an interval between D3S1263 and D3S3594. Candidate 3p25 CHD genes, such as PMCA2 (ATP2B2), fibulin 2, TIMP4, and Sec13R, were shown to map outside the target interval. Additionally, the critical region for the phenotypic features of the 3p- phenotype was mapped to D3S1317 to D3S17 (19-21 cM). These findings will accelerate the identification of the 3p25 CHD susceptibility locus and facilitate investigations of the role of this locus in non-syndromic AVSDs, which are a common form of familial and isolated CHD.
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PMID:Detailed mapping of a congenital heart disease gene in chromosome 3p25. 1092 84

Knowing the origin of cytogenetic abnormalities detected in individuals with mental retardation and dysmorphic features is essential to genetic counselling of affected families. To illustrate this, we report on six families with transmitted cytogenetic abnormalities and discuss the genotype-phenotype correlations, including the possibility of the abnormalities being normal genomic variants. The abnormalities were detected using metaphase HR-CGH; their size was estimated to range from 1.6 to 7.5 Mb using tiling path array-CGH and real-time PCR. The abnormalities were transmitted through two to four generations and included interstitial deletions of 1p31.3-p32.1, 2q13, 10q11.21-q11.23, and 13q31.1; a duplication of 1p34.1-p34.2; and in one family both a deletion of 18q21.1 and a duplication of 4q35.1-q35.2. The probands were mentally retarded and had nonspecific dysmorphic features except for one patient with the Bohring-Opitz syndrome. We considered the abnormalities in two families to be clinically significant: In one family, the proband's brain abnormality was comparable to previously reported abnormalities in individuals with a similar duplication of 1p31-p32. Congenital heart disease was previously mapped to the chromosomal region of 18q that was affected in the proband of another family. The carrier parents in both families had mild clinical features. In two families the abnormalities were considered as coincidental findings, and in two further families the abnormalities were insufficient to explain the phenotypes of the probands but possibly were related to a milder phenotype in other family members. These cases illustrate the need for careful assessment of the extended family in order to interpret the phenotypic consequences of abnormalities identified using array-CGH.
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PMID:Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants? 1753 65

Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterized by low birth weight, mental retardation, telecanthus, ptosis, and micrognathia. Congenital heart disease (CHD), typically atrioventricular septal defect (AVSD) occurs in about a third of patients. Previously we reported on an association between the presence of CHD and the proximal extent of the deletion such that a CHD susceptibility gene was mapped between D3S1263 and D3S3594. In addition, we and others have suggested several candidate genes for the psychomotor retardation usually seen with constitutional 3p25 deletions. In order to further investigate genotype-phenotype correlations in 3p- syndrome we analyzed 14 patients with cytogenetically detectable deletions of 3p25 (including one patient with a normal phenotype) using Affymetrix 250K SNP microarrays. Deletion size varied from approximately 6 to 12 Mb. Assuming complete penetrance, a candidate critical region for a CHD susceptibility gene was refined to approximately 200 kb and a candidate critical region for mental retardation was mapped to an approximately 1 Mb interval containing SRGAP3 but other 3p neurodevelopmental genes including CHL1, CNTN4, LRRN1, and ITPR1 mapped outside the candidate critical interval. We suggest that current evidence suggests that SRGAP3 is the major determinant of mental retardation in distal 3p deletions.
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PMID:Microarray based analysis of 3p25-p26 deletions (3p- syndrome). 1976 Jun 23

Trisomy 18 is the second most common autosomal trisomy in liveborn infants. Various congenital malformations, mental retardation, and high rate of infant mortality in the first year of life are characteristic features of trisomy 18. Congenital heart disease occurs in over 90% of these patients and the most common cardiac lesions are ventricular septal defect, patent ductus arteriosus and atrial septal defect. This is a case report of a baby born with trisomy 18 (postnatal diagnosis) in whom there was an unusual echocardiographic appearance of a mobile structure ("flap-like") around the area of a VSD-which was imaged prenatally.
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PMID:Prenatal diagnosis of mobile flap-like tissue on the ventricular septal defect in a newborn with trisomy 18. 2193 68

Wolf-Hirschhorn Syndrome (WHS) is a genetic syndrome that includes a typical facial appearance, mental retardation, growth delay, seizures, and congenital cardiac defects. A deletion of the terminal band of the short arm of chromosome 4, with a breakpoint at the 4p15 to 4p16 region, is the most common genetic mutation causing WHS. Congenital heart disease associated with WHS typically includes atrial and ventricular septal defects, though there are a few case reports of associated complex congenital heart disease. Here we report a case of an infant with a large 4p deletion, with a breakpoint at the 4p12 region, and hypoplasic left heart syndrome. We discuss a possible link between the size of the chromosomal deletion in WHS and the severity of the cardiac defect.
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PMID:A case of Wolf-Hirschhorn syndrome and hypoplastic left heart syndrome. 2263 3