Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations.
BACKGROUND
Chromosomal abnormalities that result in genomic imbalances are main causes of congenital and developmental anomalies including intellectual disability and multiple congenital malformations. In this report we describe four patients from three families with imbalanced translocations. Only a small percentage of imbalanced translocation individuals can be born to live, most of them were aborted in embryonic period. It is of great significances to precisely analysis the chromosome variation to study the relationship between genotype and phenotype.


RESULTS
Four patients showed common clinical manifestations including delayed growth, intellectual disability, language barrier and facial dysmorphisms. In addition to the above features, lower limbs dysplasia and both foot eversion were found in patient 1, brachydactylic hand, cerebellar ataxia and congenital heart defects were also found in patient 4. Conventional karyotype analysis revealed abnormal karyotypes 46, XX, der (6) t (6: 10) (p23; q24), 46, XX, der (20) t (3; 20) (p23; p13) and 46, XX, der (22) t (3; 22) (q27; q13.3) in the four patients, respectively. Array-CGH analyses confirmed 23.6 Mb duplication on 10q25.1-q26.3 and 0.9 Mb deletions on 6p25.3, 19.9 Mb duplication on 3p24.3-p26.3 and 0.25 Mb deletion on 20p13 and 12.5 Mb duplication on 3q27.2-q29 and 1.9 Mb deletions on 22q13.2-q13.33 in the four patients, respectively.


CONCLUSIONS
Parents with balanced translocation are passed the imbalanced chromosome to patient, and the partial monosomy and partial trisomy lead to multiple congenital malformations of four patients.
Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, 450003 Henan China.
Hong Yan
HY
Liu
Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, 450003 Henan China.
Jia
J
Huang
Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, 450003 Henan China.
Tao
T
Li
Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, 450003 Henan China.
Dong
D
Wu
Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, 450003 Henan China.
Hong Dan
HD
Wang
Department of Gynaecology and Obstetrics, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, 450003 Henan China.
Yue
Y
Wang
Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, 450003 Henan China.
Tao
T
Wang
Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, 450003 Henan China.
Liang Jie
LJ
Guo
Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, 450003 Henan China.
Qian Nan
QN
Guo
Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, 450003 Henan China.
Fei Fei
FF
Huang
Department of Ultrasonography, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, 450003 Henan China.
Rui Li
RL
Wang
Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, 450003 Henan China.
Ying Tai
YT
Wang
Chinese; Delayed growth; Imbalanced translocation; Intellectual disability; Language barrier