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Partial monosomy 10q and partial trisomy 9q with anal atresia due to maternal translocation: t(9;10)(q32;q26)
Author(s) -
Tsukuda Toshinori,
Nagata Ikuo,
Sawada Hiroshi,
Murakami Jun,
Hanaki Keiichi,
Urashima Hirofumi,
Kaneda Tomoharu,
Shimizu Norio,
Kaibara Nobuaki,
Kodama Nagao,
Ohzeki Takehiko,
Shiraki Kazuo
Publication year - 1996
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.1399-0004.1996.tb02630.x
Subject(s) - chromosomal translocation , monosomy , imperforate anus , partial trisomy , karyotype , biology , atresia , trisomy , chromosome , genetics , anus , anal atresia , removable partial denture , medicine , anatomy , gene , dentistry , dentures
We report a case of a boy with a partial deletion of the long arm of chromosome 10 and partial duplication of the long arm of chromosome 9 due to maternal balanced translocation. The karyotype was 46, XY,‐10, +der(10)t(9;10)(q32;q26)mat. Our patient had imperforate anus and as this finding is usually not observed in association with trisomy 9q, it suggests that partial monosomy of the long arm of chromosome 10 might be associated with anogenital anomalies.