Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on 2 patients with de novo terminal deletion of 6q. The first was a 4-month-old boy whose karyotype was 46,XY,del(6)(q24.3); the second a 2-year-old girl whose karyotype was 46, XX, del(6)(q25.3). The main anomalies in both patients included mental retardation, minor craniofacial and cerebral anomalies, and cardiac defects. The characteristic manifestations were imperforate anus in the first patient, and retinitis proliferans and a triatrial heart in the other. Comparison of clinical findings of our 2 patients with those of 18 previously reported patients with similar phenotypes suggests that terminal deletion of the 6q23 or 6q25 band is critical in producing the main anomalies of del(6q) syndrome.
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PMID:Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3. 162 68

A partial monosomy 6q derived from a de novo 6q (q15q21) deletion, was seen in an infant male with mental retardation, odd facies and feeding difficulties.
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PMID:Partial monosomy 6q(q15q21) by de novo interstitial deletion. 335 87

Seven terminal deletions and four interstitial deletions of 6q have been reported. We present the clinical and cytogenetic findings of these cases and of two new patients with different interstitial deletions of 6q. Although there are too few cases of interstitial deletions to identify one or more clinical syndromes associated with monosomies of the more proximal regions of 6q, a terminal 6q deletion syndrome is proposed. Its major components are microcephaly with mental retardation, strabismus, apparently low-set malformed ears, a broad nasal bridge, micrognathia, apparently short neck, congenital heart defect, abnormal palmar creases, and various hand abnormalities.
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PMID:Deletions of the long arm of chromosome 6: two new cases and review of the literature. 388 54

Here we describe a foetus with intrauterine growth retardation (IUGR), cerebral malformations and a 46,XY,der(1),t(1;6)(p36.3;q25.2) karyotype owing to a familial cryptic translocation segregating in three generations. A balanced translocation was present in the mother, the maternal uncle, the aunt and the grandmother. A female first cousin with dysmorphisms, hydrocephalus and mental retardation was a carrier of a partial trisomy 1p and a partial monosomy 6q. Multiple miscarriages were present in the family pedigree. Parents of the foetus had three other pregnancies: a male with a balanced translocation, and two foetuses with 1p36.3-pter monosomy and 6q25.2-qter trisomy.
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PMID:Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations. 1455 26

6q-syndrome is a rare disorder characterised by a combination of anatomic anomalies, and mental and motor retardation due to a monosomy or trisomy 6q. So far only 12 suspected cases of monosomies 6q have been reported. Hearing loss does not seem to be characteristic for this syndrome. We present the case of a girl with partial monosomy 6q. A bilateral severe sensory hearing loss was confirmed by subjective and objective audiometry at the age of 12 years. The girl was successfully equipped with hearing aids. Other features of the syndrome, i.e. mental retardation, microcephaly, asymmetric face, broad nasal bridge, hypertelorism, epicanthus, strabism, high arched palate, ventricular septum defect and seizures were seen. Additionally, a tetraplegy and diaphragmal hernia had been diagnosed. The girl was equipped with a gastrostomy tube because of nutritional disorders. In the literature, the possibility of hearing disorders in monosomy 6q is rarely mentioned, although limited verbal speech skills have been reported. A syndromic character of hearing disorders in 6q-syndrome cannot be excluded. We advise detailed and early audiological testing of children with monosomy 6q.
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PMID:Severe sensory hearing loss in del(6q)-syndrome. 1459 81

A 3-year-old girl presented with mental retardation, developmental delay, seizures, hypotonia, brachycephaly, a triangular face, single median maxillary central incisor (SMMCI), prominent forehead, down-slanting palpebral fissures, hypertelorism, a high-arched palate, micrognathia and low-set ears. Computed tomographic scans revealed corpus callosum dysgenesis and hypoplasia of bilateral frontal sinuses. Oligonucleotide-based array comparative genomic hybridization analysis revealed a -20.7-Mb duplication of 1q42.13-->qter and a -3.6-Mb deletion of 6q27-->qter. The karyotype of the girl was 46,XX,der(6)t(1;6)(q42.13;q27)pat. Mutational analysis of the patient revealed no mutation in the genes of SHH, SIX3 and TGIF. The present case adds unbalanced chromosome aberration of partial trisomy 1q and partial monosomy 6q to the list of genetic conditions associated with SMMCI.
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PMID:Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay. 2343 43