A case with partial trisomy 7 (q34→qter) derived from a paternal reciprocal translocation t(7;14)(q34;q32) / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 654-657, 2011.
Article
在 Zh
| WPRIM
| ID: wpr-295561
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To determine the origin of chromosomal aberrants in a mentally retarded children, and to correlate the karyotype with phenotype.</p><p><b>METHODS</b>Routine G-banding were performed to analyze the karyotype of the patient and her parents, and array comparative genomic hybridization (array CGH) were used for finely mapping the aberrant regions.</p><p><b>RESULTS</b>The mother had a normal karyotype. The father had an apparently balanced translocation involving chromosome 7q and 14q, the karyotype was 46, XX, t(7;14) (q34;q32), the karyotype of the child was then ascertained as 46, XX, der(14) t(7;14) (q34;q32.33) pat. Array CGH finely mapped the duplication to 7q34-qter, a 17.09 Mb region, and a very small associated deletion of distal chromosome 14 to 14q32.33-qter, a 2.27 Mb region. The patient presented some frequently seen features in partial trisomy 7q cases such as mental retardation, low birth weight, small nose, cleft palate, low-set ears and short neck.</p><p><b>CONCLUSION</b>This result suggested that partial trisomy 7q exert mainly phenotypic effect on the patient. Parental karyotype analysis could help define the aberrant type.</p>
全文:
1
索引:
WPRIM
主要主题:
Translocation, Genetic
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Trisomy
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Abnormalities, Multiple
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Chromosomes, Human, Pair 7
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Chromosomes, Human, Pair 14
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Chromosome Banding
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Comparative Genomic Hybridization
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Genetics
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Karyotyping
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Intellectual Disability
限制:
Adult
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Child, preschool
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Female
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Humans
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Male
语言:
Zh
期刊:
Chinese Journal of Medical Genetics
年:
2011
类型:
Article