Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay.
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.
Weimer
Jörg
J
Clinic of Gynecology and Obstetrics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany. jweimer@email.uni-kiel.de
Metzke-Heidemann
Simone
S
Plendl
Hansjörg
H
Caliebe
Almuth
A
Grunewald
Regina
R
Ounap
Katrin
K
Tammur
Pille
P
Jonat
Walter
W
Bartsch
Oliver
O
Siebert
Reiner
R
Arnold
Norbert
N
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D002648:Child; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000473:pathology*; D008297:Male; D012303:Ring Chromosomes; D013064:Speech Disorders / Q000473:pathology*