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Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations.

Liu HY, Huang J, Li T, Wu D, Wang HD, Wang Y, Wang T, Guo LJ, Guo QN, Huang FF, Wang RL, Wang YT - Mol Cytogenet (2016)

Bottom Line: 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.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.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, 450003 Henan China.

ABSTRACT

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.

Conclusion: 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.

No MeSH data available.


Related in: MedlinePlus

GTG-banding karyotype analysis image of patients and their parents. Family 1 was shown in upper panel. a and b were patient 1 and father, respectively; Family 2 was shown in middle panel. c, d and e were patient 2, 3 and father, respectively; Family 3 was shown in lower panel. f, g and h were patient 4, fetus and mother, respectively
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Fig2: GTG-banding karyotype analysis image of patients and their parents. Family 1 was shown in upper panel. a and b were patient 1 and father, respectively; Family 2 was shown in middle panel. c, d and e were patient 2, 3 and father, respectively; Family 3 was shown in lower panel. f, g and h were patient 4, fetus and mother, respectively

Mentions: The patient karyotyping was performed on peripheral blood lymphocytes. The report revealed abnormal karyotype 46, XX, der (6) t (6: 10) (p23; q24) (Fig. 2a). A similar protocol was followed for her parents’ chromosome preparation. The report revealed normal mother with 46, XX pattern, but the father had balanced translocation with 46, XY, t (6; 10) (p23; q24) pattern. This chromosomal abnormality was a balanced translocation between 6 and 10 (Fig. 2b).Fig. 2


Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations.

Liu HY, Huang J, Li T, Wu D, Wang HD, Wang Y, Wang T, Guo LJ, Guo QN, Huang FF, Wang RL, Wang YT - Mol Cytogenet (2016)

GTG-banding karyotype analysis image of patients and their parents. Family 1 was shown in upper panel. a and b were patient 1 and father, respectively; Family 2 was shown in middle panel. c, d and e were patient 2, 3 and father, respectively; Family 3 was shown in lower panel. f, g and h were patient 4, fetus and mother, respectively
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4837590&req=5

Fig2: GTG-banding karyotype analysis image of patients and their parents. Family 1 was shown in upper panel. a and b were patient 1 and father, respectively; Family 2 was shown in middle panel. c, d and e were patient 2, 3 and father, respectively; Family 3 was shown in lower panel. f, g and h were patient 4, fetus and mother, respectively
Mentions: The patient karyotyping was performed on peripheral blood lymphocytes. The report revealed abnormal karyotype 46, XX, der (6) t (6: 10) (p23; q24) (Fig. 2a). A similar protocol was followed for her parents’ chromosome preparation. The report revealed normal mother with 46, XX pattern, but the father had balanced translocation with 46, XY, t (6; 10) (p23; q24) pattern. This chromosomal abnormality was a balanced translocation between 6 and 10 (Fig. 2b).Fig. 2

Bottom Line: 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.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.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, 450003 Henan China.

ABSTRACT

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.

Conclusion: 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.

No MeSH data available.


Related in: MedlinePlus