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Two cases of 8p trisomy in one sibship
Author(s) -
Chiyo HideAki,
Nakagome Yasuo,
Matsui Ichiro,
Kuroki Yoshikazu,
Kobayash Hideo,
Ono Kazuo
Publication year - 1975
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.1399-0004.1975.tb00337.x
Subject(s) - trisomy , genetics , biology , partial trisomy , karyotype , chromosome , gene
Two cases of 8p trisomy in one sibship are presented. The father was a balanced carrier of a translocation rep (8;13) (p11; q34). Case 1 was a 2‐year‐old boy with multiple minor anomalies and severe mental retardation. Giemsa banding studies revealed that he was trisomic for the greater part of 8p (8p11 → pter). When his mother became pregnant again, amniocentesis was carried out in the 17th week of gestation. The fetus (Case 2) was shown to have the same 8p trisomy as Case 1. The pregnancy was terminated in the 22nd week. An autopsy revealed no major anomalies. Clinical features of cases with 8 and 8p trisomy are reviewed briefly.