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Partial trisomy 12q: clinical and cytogenetic observations
Author(s) -
Tengström C.,
Wilska M.,
Kähkönen M.,
Autio S.,
Leisti J.
Publication year - 1985
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.1399-0004.1985.tb00369.x
Subject(s) - karyotype , partial trisomy , trisomy , medicine , biology , chromosome , genetics , gene
High resolution chromosome banding showed a male infant with profound mental retardation, hypertonia and multiple congenital anomalies to have the karyotype 46, XY,‐ der(2), t(2;12)(q37.3;q24.13)pat. Most of the clinical findings were compatible with those of the previously described cases with partial trisomy 12q. Some of the clinical features seem to disappear with increasing age.