A pair of siblings with diastrophic dysplasia and E trisomy mosaicism

A mixture of clinical signs seen in diastrophic dysplasia as well as in trisomy 18 was found in two siblings with an E trisomy mosaicism. The E trisomy mosaicism was present in blood and skin during the first years of life, but disappeared later on.

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Bibliographic Details
Published inHuman heredity Vol. 34; no. 4; p. 266
Main Authors Holmgren, G, Jagell, S, Lagerkvist, B, Nordenson, I
Format Journal Article
LanguageEnglish
Published Switzerland 01.01.1984
Subjects
Adult
Bone Diseases, Developmental - genetics
Child
Chromosome Aberrations - genetics
Chromosome Disorders
Chromosomes, Human, 16-18
Female
Humans
Intellectual Disability - genetics
Male
Mosaicism
Trisomy
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Summary:A mixture of clinical signs seen in diastrophic dysplasia as well as in trisomy 18 was found in two siblings with an E trisomy mosaicism. The E trisomy mosaicism was present in blood and skin during the first years of life, but disappeared later on.
ISSN:0001-5652
DOI:10.1159/000153477