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Functional mosaic trisomy of 1q12 1q21 resulting from X‐autosome insertion translocation with random inactivation
Author(s) -
Vust A.,
Riordan D.,
Wickstrom D.,
Chudley A. E.,
Dawson A. J.
Publication year - 1998
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.1399-0004.1998.tb03697.x
Subject(s) - euchromatin , biology , chromosomal translocation , karyotype , heterochromatin , genetics , x chromosome , autosome , chromosome , fluorescence in situ hybridization , trisomy , chromosome 4 , microbiology and biotechnology , gene
Cytogenetic studies of a 16‐year‐old female with behaviour and learning problems revealed that one X chromosome had additional material inserted at Xq21. Fluoroescence in situ hybridization (FISH) analysis showed that the inserted segment contained heterochromatin and adjacent euchromatin of chromosome 1 origin. The karyotype of this patient was established as: 46,X,der(X)ins(X;?)(q21;?).ish der(X) ins(X;1)(q21;q12q21)(wcpl +). Chromosome replication studies demonstrated a random pattern of X inactivation, suggesting that the inserted material may be too ‘small.’ to skew lyonization. The consequences of this abnormal X chromosome in relation to the clinical phenotype are discussed.