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Ring Chromosome 7: Report of a Case
Author(s) -
Kohyama Jun,
Watanabe Seiichi,
Nakajima Masaki,
Suzumura Hirosi,
Ishikawa Toshihiko,
Ishikawa Kiyoto,
Saito Fumiko,
Fukuda Chikao.
Publication year - 1988
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1988.tb02545.x
Subject(s) - medicine , ring chromosome , ring (chemistry) , chromosome , hypoplasia , breakpoint , karyotype , genetics , anatomy , biology , gene , chemistry , organic chemistry
A 5‐month‐old girl with a ring chromosome 7 [46, XX, r(7) (p22q36)I is presented. She was the fifth and youngest patient with this chromosomal anomaly, and the first instance whose chromosomal breakpoints were determined by high resolution banding analysis, Numerous café‐au‐lait‐like pigmentation spots and hypoplasia of the thenar creases were observed.