[A new syndrome of mental retardation and chromosomic instability in 3 siblings].

Article

[A new syndrome of mental retardation and chromosomic instability in 3 siblings].

Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion - 1 Jan 2000

Carnevale A, Molina B, Cardona M

Abstract excerpt

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...

Topics

Child
Child, Preschool
Chromosome Aberrations
Ear, External
Genetic Linkage
Humans
Intellectual Disability
Karyotyping
Male
Malocclusion
Microcephaly
Phenotype
Syndrome
X Chromosome

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