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Case report of an extra, small, acrocentric chromosome in a non‐mongoloid girl
Author(s) -
Kaijser Kurt
Publication year - 1974
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1974.tb01691.x
Subject(s) - mongoloid , girl , karyotype , centromere , chromosome , genetics , daughter , biology , chromosome analysis , medicine , evolutionary biology , gene , population , environmental health
The case described here is a non‐mongoloid girl, with an extra, small, acrocentric chromosome. She shows some of the clinical features previously described in non‐mongoloid children with a similar chromosomal karyotype, including severe mental retardation, large, low‐set ears, and long, slender fingers. Attempts have been made to identify this chromosome by QM fluorescence analysis, but no conclusive answer has been reached. Investigation of the parents' chromosomes was not possible due to their refusal to cooperate.