Partial Trisomy 1q41 Syndrome Delineated by Whole Genomic Array Comparative Genome Hybridization
Journal of Korean Medical Science
; : 1097-1101, 2008.
Article
in En
| WPRIM
| ID: wpr-36256
Responsible library:
WPRO
ABSTRACT
Partial trisomy 1q syndrome is a rare chromosomal abnormality. We report on a male infant with 46,XY,der(11)t(1;11)(q41;p15.5) due to unbalanced segregation of the maternal reciprocal balanced translocation 46,XX,t(1;11)(q41;p15.5). The baby presented with a mild phenotype, characterized by a triangular face, almond-shaped eyes, low ears, short stature with relatively long legs, and mild psychomotor retardation. We utilized whole genomic array comparative genome hybridization (CGH) with 4,000 selected bacterial artificial chromosomes (BACs) to define the chromosomal breakpoints and to delineate the extent of the partial trisomy in more detail. To our knowledge, this is the first case of nearly pure "partial trisomy 1q41" defined by whole genomic array CGH.
Key words
Full text:
1
Database:
WPRIM
Main subject:
Phenotype
/
Translocation, Genetic
/
Trisomy
/
Chromosomes, Human, Pair 1
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Chromosomes, Human, Pair 11
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In Situ Hybridization, Fluorescence
/
Oligonucleotide Array Sequence Analysis
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Comparative Genomic Hybridization
/
Karyotyping
Limits:
Humans
/
Infant
/
Male
Language:
En
Journal:
Journal of Korean Medical Science
Year:
2008
Document type:
Article