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Trisomy 18q: 46, XX,13q+,t(13;18)(q32;q11) in a newborn associated with multiple congenital anomalies due to paternal reciprocal translocation, 46, XY,‐13,+der(13)/t(13;18)(q32;q11)
Author(s) -
Murthy D. S. Krishna,
Patel Z. M.,
Ambani L. M.
Publication year - 1980
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.1399-0004.1980.tb00879.x
Subject(s) - trisomy , chromosomal translocation , reciprocal , partial trisomy , biology , genetics , karyotype , chromosome , gene , philosophy , linguistics
A 20‐day‐old female neonate presented with multiple congenital anomalies, convulsions and failure to thrive. Karyotype analysis of the proposita revealed an unbalanced translocation, 46, XX,13q+,t(13;18)(q32;qll)pat resulting in partial trisomy 18q. Her father and a 5‐year‐old sister were phenotypically normal, balanced translocation carriers, 46, XY, ‐13, + der(13),t(13;18)(q32;qll) and 46, XX,‐13,+der(13),t(13;18)(q32;qll), respectively. The case presented here is the second liveborn reported with trisomy 18q and is of interest from the point of view of the structural chromosomal aberration resulting in the manifestations of most features of trisomy 18 and some of 13q monosomy. The infant died due to convulsions at the age of 2 months.