Trisomy 3q2 and Pierre-Robin sequence in a boy with unbalanced 46,XY, der(10), t(3;10)(q23;q26.3) de novo karyotype.
作者信息
Kleczkowska A, Fryns J P, Moerman F, Martens M, Eggermont E, Jaeken J, Van den Berghe H
机构信息
Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
出版信息
Helv Paediatr Acta. 1988 Nov;43(3):245-8.
PMID:3220792
Abstract
A partial trisomy of the long arm of chromosome number 3 (3q23----3qter) is reported in a malformed male newborn with a Pierre-Robin sequence. The importance of the detection of chromosomal abnormalities towards the nosology of malformation sequences is discussed.
摘要
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