Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay * | Zendy

Weimer Jörg | Zendy; MetzkeHeidemann Simone | Zendy; Plendl Hansjörg | Zendy; Caliebe Almuth | Zendy; Grunewald Regina | Zendy; Õunap Katrin | Zendy; Tammur Pille | Zendy; Jonat Walter | Zendy; Bartsch Oliver | Zendy; Siebert Reiner | Zendy; Arnold Norbert | Zendy

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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.

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