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Interstitial de novo deletion of the long arm of chromosome 5: Mapping of 5q bands associated with particular malformations
Author(s) -
Rodewald Alexander,
Zankl Merve,
Sitzmann FriedrichCarl,
Zang Klaus Dieter
Publication year - 1982
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.1399-0004.1982.tb01438.x
Subject(s) - long arm , dermatoglyphics , genetics , phenotype , hypotonia , biology , chromosome , congenital malformations , karyotype , gene , pregnancy
A new case of interstitial deletion of the long arm of one chromosome No. 5 (q13→q22) is described. The girl shows mental retardation, severe hypotonia, dysmorphic facies and peculiar dermatoglyphics. The relationship between partial trisomies and partial monosomies of 5q chromosomal segments and associated clinical features is discussed. It seems possible to draw a rough phenotypic map of the long arm of chromosome 5 (5q), correlating observed malformations and phenotypic features with specific chromosomal regions.