Partial trisomy of 11 and 22 due to familial translocation t(11;22) (q23;q11), inherited in three generations View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1979-10

AUTHORS

Hiroshi Nakai, Yoshifumi Yamamoto, Yoshikazu Kuroki

ABSTRACT

A 1-year-old girl with partial trisomy of 11 (q23→qter) and 22 (pter→q11) is presented. She had severe mental retardation, cleft palate, congenital heart disease, congenital dislocation of the hip, and other anomalies. The extra acrocentric chromosome was identified as der(22),t(11;22) (q23;q11) from a familial translocation and by G-and R-banding methods. The mother and the maternal grandfather were carriers of balanced rcp(11;22) (q23;q11) translocations. The possible relations between phenotypic features and the karyotypes of partial trisomy 11 and 22 are discussed. More... »

PAGES

349-355

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00283408

DOI

http://dx.doi.org/10.1007/bf00283408

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1011674637

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/511169


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