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Distal trisomy of chromosome 17q due to inverted tandem duplication
Author(s) -
Shimizu Toshiaki,
Ikeuchi Tatsuro,
Shinohara Tamiko,
Ohba Satoru,
Miyaguchi Hideki,
Akiyama Tadashi,
Shibata Takashi
Publication year - 1988
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.1399-0004.1988.tb03454.x
Subject(s) - genetics , tandem exon duplication , gene duplication , trisomy , biology , chromosome , gene
A female infant with distal trisomy 17q is described. The anomaly resulted from a de novo inverted duplication of the 17q2405→q25.3 region as defined by high‐resolution banding. The proband's overall clinical picture was in good agreement with those of previously reported cases of partial trisomy 17q. The phenotypic features relatively common to our and other reported cases, included mental and growth retardation, microcephaly, temporal retraction, blepharophimosis, saddle nose, thin upper lip, down‐turned corner of the mouth, high‐arched palate, low‐set and deformed ears, webbed neck and lowered posterior hairline. A unique feature of the present case was systemic hirsutism.