Partial trisomy 1q41 syndrome delineated by whole genomic array comparative genome hybridization.
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.
Shin
Yong Beom
YB
Department of Rehabilitation Medicine, Pusan National University, School of Medicine, Busan, Korea.
Nam
Sang Ook
SO
Seo
Eul-Ju
EJ
Kim
Hyung-Hoi
HH
Chang
Chulhun L
CL
Lee
Eun-Yup
EY
Son
Han-Chul
HC
Hwang
Sang-Hyun
SH
D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11; D055028:Comparative Genomic Hybridization; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy