CIANCHETTI, C and MUNTONI, F and FALCHI, AM and NUCARO, A and SANNIOFANCELLO, G and CAO, A and MARROSU, MG (1992) X-LINKED MENTAL-RETARDATION AND CHARACTERISTIC PHYSICAL FEATURES IN 2 BROTHERS WITH DUPLICATION XP22-XPTER. AM J MED GENET , 43 (1-2) 475 - 478.
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Two brothers are reported who share mental retardation, conjunctival teleangectasias (mainly equatorial) and characteristic flat face with small mouth and thin prolabia. At the neuropsychological examination, the older brother at 14 years showed a full scale IQ of 40 (WISC) , with verbal IQ 45 and performance IQ 44. The younger brother at 7 years showed a full scale IQ of 58 (WPPSI), with verbal IQ 67 and performance IQ 55. Chromosome studies showed a duplication Xp22-Xpter in both brothers and in the inactivated X of their mother. The anomaly was not present in a 3rd healthy brother and in other healthy relatives. The mother has normal intelligence and did not present any of the physical features of her affected sons.
|Title:||X-LINKED MENTAL-RETARDATION AND CHARACTERISTIC PHYSICAL FEATURES IN 2 BROTHERS WITH DUPLICATION XP22-XPTER|
|Keywords:||X-LINKED MENTAL RETARDATION, CONJUNCTIVAL TELEANGECTASIS, FLAT FACE, XP22 DUPLICATION, LINKAGE ANALYSIS|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health > Department of Neurosciences and Mental Health > ICH - Dubowitz Neuromuscular Centre|
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