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

Duplication (partial trisomy) of the long arm of chromosome 6 has been described in 5 children [Robertson et al, 1975, Chen et al, 1976, Clark, 1977]. We wish to report here an additional case due to a familial translocation in which the proband's karyotype is 46,XX,der(3),rcp(3;6)(p25;q21)mat. The phenotypes of the 6 children with duplication 6q are strikingly similar. Each child has duplication involving approximately the distal 1/3 to 1/2 of the long arm of chromosome 6. Distinctive features present in all 6 children include microcephaly, acrocephaly, prominent forehead, flat facial profile, depressed nasal bridge, flat malar areas, "carp" mouth, micrognathia and mental retardation. The phenotype of the duplication 6q syndrome is distinctive enough to be clinically recognizable.
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PMID:Duplication 6q syndrome. 47 32

Two cases are reported of familial partial trisomy 6q syndrome due to segregation of ins(5;6) (q33;q15q27) in three generations. The common clinical features include growth and mental retardation, feeding difficulty during infancy, microcephaly with downward slanting palpebral fissures, flattened nasal bridge with anteverted and flared nares, long philtrum, high arched palate, partially opened and protruding mouth with receding chin, deep transverse creases of the ears, three creases on the 4th fingers, clinodactyly of the 5th fingers with a single crease, and other dermatoglyphic findings. These characteristic features of two patients appear to make partial trisomy 6q a clinically recognizable syndrome.
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PMID:Familial partial trisomy 6q syndromes resulting from inherited ins (5;6) (q33;q15q27). 127 76

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