Disease associated balanced chromosome rearrangements (DBCR): report of two new cases.
Disease associated balanced chromosome rearrangements (DBCR) causing truncation, deletion, inactivation or over-expression of specific genes are instrumental in identifying and cloning several disease genes and are estimated to be much more common than anticipated. In one survey, the minimal frequency of combined balanced de novo reciprocal translocations and inversions causing abnormal phenotype is estimated to be 0.17%, a sixfold increase compared to the general population suggesting a causative linkage between the abnormality and the observed phenotypic traits. Here, we report two new cases of apparently balanced de novo translocations resulting in developmental delay and dysmorphic features.
Tonk
V S
VS
Department of Pediatrics, Texas Tech University Health Sciences Center, TX, Lubbock, USA.
Wyandt
H E
HE
Huang
X
X
Patel
N
N
Morgan
D L
DL
Kukolich
M
M
Lockhart
L H
LH
Velagaleti
Gopalrao V N
GV
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D025063:Chromosome Disorders / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic