Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay.
Am J Med Genet A
; 140(5): 488-95, 2006 Mar 01.
Article
em En
| MEDLINE
| ID: mdl-16470789
ABSTRACT
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.
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Bases de dados:
MEDLINE
Assunto principal:
Cromossomos em Anel
/
Distúrbios da Fala
/
Anormalidades Múltiplas
/
Face
/
Síndrome de Klinefelter
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Child
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Alemanha