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Mental retardation, malformation syndrome and partial 7p monosomy [45, XX, tdic (7;15) (p21;pll)]
Author(s) -
Nakagome Yasuo,
Teramura Fumio,
Kataoka Kenkichi,
Hosono Fumitoshi
Publication year - 1976
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.1399-0004.1976.tb01623.x
Subject(s) - centromere , dicentric chromosome , monosomy , karyotype , mentally retarded , chromosome , biology , genetics , psychology , gene , developmental psychology
A mentally retarded and malformed girl is described. Her karyotype was 45, XX, tdic(7;15) (p21;p11), i.e. she was monosomic for bands 7p22 and a part of 7p21. Only one of the two centromeres of the dicentric chromosome appeared to be functioning. The C‐band positive material was retained by both centromeres (or adjacent to them). However, the Cd‐band positive structure was absent in the presumably nonfunctioning centromere region.