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Interstitial deletion of the long arm of chromosome 6 [del(6)(q16q22)]: case report and review of the literature
Author(s) -
Schwartz M. F.,
Kaffe S.,
Wallace S.,
Desnick R. J.
Publication year - 1984
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.1399-0004.1984.tb01106.x
Subject(s) - monosomy , long arm , genetics , phenotype , chromosome , chromosome 7 (human) , biology , karyotype , medicine , gene
Partial monosomy of 6q resulting from an interstitial deletion of bands q16 → q22 was found in a 12‐year‐old boy manifesting mental retardation, seizure disorder, and dysmorphic features. The correlation of phenotypic expression and specific long arm deletions of chromosome No. 6 is discussed.