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Unbalanced karyotype, dup 14(q13‐q22), in a mother and her two children
Author(s) -
Pot M. L. H.,
Giltay J.C.,
Wilsen A.,
BreslauSiderius E. J.
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.tb02395.x
Subject(s) - dup , karyotype , genetics , biology , pediatrics , medicine , chromosome , gene duplication , gene
A duplication of chromosome 14(q13‐q22) caused mild mental retardation and some dysmorphic features in two children and their mother. The unbalanced karyotype did not affect the fertility of the mother. Fluorescent in situ hybridization, with a chromosome 14 specific paint, was used to confirm that the inserted material was from chromosome 14.