Fryns syndrome without deletion 16q

Fryns and his colleagues described two children with a remarkably similar phenotype, and suggested their condition was due to a partial or total deletion of the long arm of chromosome 16 distal to band q21. We report the same phenotype in a boy whose blood karyotype was normal.

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Bibliographic Details
Published inAnnales de génétique Vol. 23; no. 3; p. 171
Main Authors Coté, G B, Papadakou-Lagoyanni, S, Kairis, M
Format Journal Article
LanguageEnglish
Published Netherlands 1980
Subjects
Chromosome Deletion
Chromosomes, Human, 16-18
Humans
Infant, Newborn
Male
Phenotype
Skull - abnormalities
Syndrome
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Summary:Fryns and his colleagues described two children with a remarkably similar phenotype, and suggested their condition was due to a partial or total deletion of the long arm of chromosome 16 distal to band q21. We report the same phenotype in a boy whose blood karyotype was normal.
ISSN:0003-3995