[Balanced chromosome abnormalities with abnormal phenotype].

J P Fryns

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PubMed · 3379377

[Balanced chromosome abnormalities with abnormal phenotype].

J P Fryns

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Abstract

In this report we summarized our experience (1970-1986) on autosomal reciprocal translocations with particular interest towards the possible excess of mental retardation and congenital malformations in carriers of apparently balanced chromosomal rearrangements. The present data confirm the previous findings that the association of MR/MCA and apparently balanced autosomal chromosomal rearrangements is much higher than expected by chance.

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Chromosome Aberrations Chromosome Banding Chromosome Disorders Congenital Abnormalities Genetic Carrier Screening Humans Infant, Newborn Intellectual Disability Karyotyping Phenotype Translocation, Genetic Journal Article

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J P Fryns. 1988. [Balanced chromosome abnormalities with abnormal phenotype].. https://pubmed.ncbi.nlm.nih.gov/3379377/

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