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A ring chromosome, diagnosed by quinacrine fluorescence as No. 9, in a mentally retarded girl
Author(s) -
Jacobsen Petrea,
Mikkelsen Margareta,
Rosleff Flemming
Publication year - 1973
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.1399-0004.1973.tb01173.x
Subject(s) - girl , mentally retarded , ring chromosome , short stature , ring (chemistry) , karyotype , cystinuria , chromosome , medicine , anatomy , genetics , biology , pediatrics , chemistry , psychology , cysteine , developmental psychology , biochemistry , cystine , organic chemistry , gene , enzyme
A ring chromosome No. 9 identified by quinacrine staining was found in a 22‐year‐old mentally retarded girl with low stature, fissure of the palate, protruding lower lip and valgus deformity of the knees. The patient showed heterozygosity (type II) for cystinuria. The ring was unstable and showed different configurations.