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

Two female infants with de novo interstitial deletions of 8p were studied. One with a deletion from p11.21 to p11.23, and the other patient with a deletion from p11.23 to p21.3 had several clinical manifestations of the terminal 8p- syndrome. Band 8p11.23 was deleted in both patients. The clinical manifestations common to both patients included low birthweight, growth deficiency, congenital heart disease, mental retardation, dolichocephaly, low-set, malformed ears, high-arched palate, thin lips and micrognathia. Since these features may occur in most patients with chromosomal imbalance, and the terminal 8p- syndrome has hitherto been assumed to result from terminal deletions of 8p, ranging from p21.3 to p23, it is likely that these features are simply related to the chromosomal imbalance rather than to band specific imbalance of 8p11.23. The present study suggests that two different types of deletion, interstitial and terminal, are associated with still poorly defined, rather non-specific clinical features.
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PMID:Interstitial deletion of 8p: report of two patients and review of the literature. 758 43

A patient is described with partial trisomy 9p and partial monosomy 8p due to a maternal translocation (t(8;9)(p23;p13)). The clinical phenotype is compatible with the partial trisomy 9p syndrome. This is a clinically recognizable syndrome with mental retardation as a constant feature. Little is known about the outcome and level of functioning of patients with this condition. We present the follow-up of a patient with partial trisomy 9p who has been regularly examined from birth until age 10 years.
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PMID:Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development. 865 90

We report the prenatal diagnosis, at 18 weeks' gestational age of a del(8)(p23.1-->pter) in a fetus with an atrio-ventricular canal, persistent left superior vena cava and hypoplastic right ventricle detected by sonographic imaging. We further refine the breakpoints associated with this defect using fluorescent in situ hybridization analysis (FISH). Our findings correlate with recent reports of the localization and importance of GATA4 (a zinc finger transcription factor) in cardiac development. Though microcephaly, mental retardation and typical behavioural features are well described in various deletions in 8p, the absence of notable microcephaly in this case raises the possibility for a separate genetic aetiology for some of these features. Indeed, primary autosomal recessive microcephaly (MCPH1) was recently mapped to a nearby region and may be the cause for this frequent observation in some cases of 8p deletions. These observations illustrate the role of FISH in prenatal diagnosis and refinement of chromosomal breakpoints. In addition, mappings of loci significant for cardiac development are presented. Our findings suggest that some features of the 8p deletion syndrome may ultimately be uncoupled from one another, and underscore the need for further study of this region of chromosome 8, in order to achieve adequate information for genetic counselling.
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PMID:Prenatal detection and mapping of a distal 8p deletion associated with congenital heart disease. 1052 47

A 40 year-old dysmorphic and mentally retarded female is reported with a de novo unbalanced chromosomal rearrangement (karyotype: 46,XX,der(8)t(8;13)(p23;q123),idic(13)(pter-->q123: q123-->pter) resulting in an isodicentric chromosome 13 and a double aneusomy including partial trisomy 13 (13pter-q123) and distal monosomy 8p (8pter-p23). The main clinical findings consist of developmental/mental retardation, behavioural disturbances and minor congenital defects, not consistent with the clinical pattern of either of the two aneusomies. A mechanism for the chromosome rearrangement is proposed and the absence of specific physical findings in the present patient is discussed in the light of the available literature data.
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PMID:Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome. 1067 61

We describe a 3-year-old girl with partial trisomy 4p and partial monosomy 8p who had prenatal and postnatal growth retardation, mental retardation, no speech development, mild synophrys, hirsutism, apparently low-set ears, dysphonic hoarse voice, hyperactivity, and small hands with proximal placement of the thumbs. She had recurrent lung infections, due to earlier aspiration and immune deficiency (chronic granulomatous disease). Cytogenetic findings in this and other cases with suggestive phenotype may point to an additional locus for Brachmann-de Lange phenotype.
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PMID:Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome--another locus for Brachmann-de Lange syndrome on 4p? 1118 1

Microscopically visible distal 8p deletions have been associated with growth and mental impairment, minor facial anomalies, congenital heart defects, and behavioral problems. We report two cousins with mild retardation and behavioral problems, including inappropriate sexual behavior and pyromania. Familial learning difficulties on the grandfather's side incompatible with Mendelian inheritance prompted telomere screening, which detected a submicroscopic terminal 8p deletion of < 5.1 Mb. The cousins' mothers both carried a t(8;20)(p23;p13) balanced translocation. The frequently observed microcephaly in patients with microscopically visible deletions of 8pter is lacking in both cousins, suggesting that the gene(s) causing the microcephaly is centromeric to the deleted region. The absence of cardiac defects in the cousins confirms the more proximal location of gene(s) causing these abnormalities in other reported cases with microscopically visible 8pter deletions and supports involvement of the GATA4 gene. Moreover, the current cases predict the presence of a putative gene(s) involved in behavior in the most telomeric 5.1 Mb of the p-arm of chromosome 8. This first clinical report of a submicroscopic subtelomeric 8p deletion gives more insight into the so-called 8p- syndrome and demonstrates the difficulty in making a clinical diagnosis for a submicroscopic 8pter deletion in an individual patient with mental retardation.
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PMID:Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13). 1125 99

A deletion 8p syndrome is a relatively uncommon congenital disease characterized by mental retardation associated with multiple malformation that make anesthetic management a challenge. Anesthetic management of a patient with deletion 8p syndrome may pose a serious problem mainly from difficult tracheal intubation, aspiration complication and cardiac malformation. We experienced a case of 10 year-old boy with a deletion 8p syndrome who underwent appendectomy under the general anesthesia. Intubation was performed by video glidescope after unsuccessful attempt with Macintosh laryngoscope. A high arched palate, short neck, poor patient cooperation due to mental retardation and occasional autistic behaviour made airway management difficult. This case should alert anesthesiologists to the greater difficulties of managing patients with deletion 8p syndrome.
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PMID:The general anesthesia experience of deletion 8p syndrome patient -A case report-. 2211 Aug 88