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[A new syndrome of mental retardation and chromosomic instability in 3 siblings].
Rev Invest Clin. 1989 Jul-Sep; 41(3):259-64.RI

Abstract

We report on three brothers with mental retardation, microcephaly and prominent ears whose cytogenetic studies showed no fragile X. However, an elevated frequency of spontaneous chromosome aberrations compared with that in normal individuals was found. The chromosome aberrations included acentric fragments, rings, dicentrics and radial figures. The lymphocytes did not show an increased sensitivity to mitomycin C nor to gamma radiation. It is suggested that this is a new hereditary syndrome of mental retardation with chromosome instability, probably recessive X linked.

Authors

Carnevale A
No affiliation info available
Molina B
No affiliation info available
Cardona M
No affiliation info available

MeSH

ChildChild, PreschoolChromosome AberrationsEar, ExternalGenetic LinkageHumansIntellectual DisabilityKaryotypingMaleMalocclusionMicrocephalyPhenotypeSyndromeX Chromosome

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

spa

PubMed ID

2814001

Citation

Carnevale, A, et al. "[A New Syndrome of Mental Retardation and Chromosomic Instability in 3 Siblings]." Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, vol. 41, no. 3, 1989, pp. 259-64.
Carnevale A, Molina B, Cardona M. [A new syndrome of mental retardation and chromosomic instability in 3 siblings]. Rev Invest Clin. 1989;41(3):259-64.
Carnevale, A., Molina, B., & Cardona, M. (1989). [A new syndrome of mental retardation and chromosomic instability in 3 siblings]. Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 41(3), 259-64.
Carnevale A, Molina B, Cardona M. [A New Syndrome of Mental Retardation and Chromosomic Instability in 3 Siblings]. Rev Invest Clin. 1989 Jul-Sep;41(3):259-64. PubMed PMID: 2814001.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [A new syndrome of mental retardation and chromosomic instability in 3 siblings]. AU - Carnevale,A, AU - Molina,B, AU - Cardona,M, PY - 1989/7/1/pubmed PY - 1989/7/1/medline PY - 1989/7/1/entrez SP - 259 EP - 64 JF - Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion JO - Rev Invest Clin VL - 41 IS - 3 N2 - We report on three brothers with mental retardation, microcephaly and prominent ears whose cytogenetic studies showed no fragile X. However, an elevated frequency of spontaneous chromosome aberrations compared with that in normal individuals was found. The chromosome aberrations included acentric fragments, rings, dicentrics and radial figures. The lymphocytes did not show an increased sensitivity to mitomycin C nor to gamma radiation. It is suggested that this is a new hereditary syndrome of mental retardation with chromosome instability, probably recessive X linked. SN - 0034-8376 UR - https://www.unboundmedicine.com/medline/citation/2814001/[A_new_syndrome_of_mental_retardation_and_chromosomic_instability_in_3_siblings]_ L2 - http://www.diseaseinfosearch.org/result/4607 DB - PRIME DP - Unbound Medicine ER -