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De novo translocation Down's syndrome: Risk of recurrence of Down's syndrome
Author(s) -
Gardner R. J. M.,
Veale A. M. O.
Publication year - 1974
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.1399-0004.1974.tb00646.x
Subject(s) - chromosomal translocation , down syndrome , chromosome 21 , genetics , chromosome , medicine , pediatrics , biology , gene
Seventy‐six cases of de novo translocation Down's syndrome had 101 siblings, none with Down's syndrome. The risk to the parents of a de novo translocation Down's syndrome child of subsequently having another child with Down's syndrome is, therefore, taken to be less than 1/101. It is emphasized that this estimate is based on a heterogeneous material. Aspects of the formation of the translocation chromosome are discussed.