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Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay *
Author(s) -
Weimer Jörg,
MetzkeHeidemann Simone,
Plendl Hansjörg,
Caliebe Almuth,
Grunewald Regina,
Õunap Katrin,
Tammur Pille,
Jonat Walter,
Bartsch Oliver,
Siebert Reiner,
Arnold Norbert
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31104
Subject(s) - small supernumerary marker chromosome , marker chromosome , fluorescence in situ hybridization , supernumerary , biology , klinefelter syndrome , microdissection , genetics , testis determining factor , karyotype , chromosome , locus (genetics) , aneuploidy , genetic marker , y chromosome , anatomy , gene , endocrinology
A boy with signs of Klinefelter syndrome, mild facial dysmorphic features, and severely retarded speech development displayed a female karyotype with mosaicism for two marker chromosomes 48,XX,+mar1,+mar2[68]/47,XX,+mar1[19]/47,XX,+mar2[6]/46,XX[8]. Using chromosomal microdissection, locus‐specific fluorescence in situ hybridization (FISH), and PCR with several Y‐chromosome markers, the larger supernumerary marker chromosome (SMC) was characterized as a ring Y‐chromosome. Detection of the SRY‐region explained the male phenotype. The smaller second marker chromosome contained the pericentromeric region of chromosome 8. We suggest that the co‐occurrence of a partial Y‐chromosome and partial trisomy 8 explain the severe speech delay and the facial dysmorphic features. © 2006 Wiley‐Liss, Inc.