Abstract
We report a retarded male with an unbalanced karyotype 45,XY,t(8;15) (p23;q12) showing small deletion of chromosome 8(p23 leads to pter) and 15(pter leads to q12). The same chromosome complement was also present in 4 normal family members over 3 generations.
摘要
相似文献
1
Familial deletion.
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2
A severely retarded male with deletion of chromosomes 15 (pter leads to q13) and 10 (q 26 leads to qter).一名患有严重智力迟钝的男性，其15号染色体（从短臂末端到q13）和10号染色体（从q26到长臂末端）存在缺失。
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De novo complex chromosomal rearrangement (CCR) in a severely mentally retarded boy.一名重度智力发育迟缓男孩的新发复杂染色体重排（CCR）
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Familial complex chromosome rearrangement giving rise to balanced and unbalanced recombination products.导致平衡和不平衡重组产物的家族性复杂染色体重排。
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Malformation syndrome of duplication 12q24.1 leads to qter.12q24.1重复畸形综合征导致qter。
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Interstitial deletion of long arm of chromosome 13.13号染色体长臂的间质缺失
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Ambiguous genitalia and mental retardation associated with a translocation 46, XX, t(9; 10) and a deletion in 9q.与46, XX, t(9; 10)易位及9q缺失相关的两性生殖器模糊和智力发育迟缓
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Brief clinical report: dup(4p15 leads to 4pter) in a 19-year-old woman resulting from a maternal 4;14 translocation.简要临床报告：一名19岁女性因母亲的4号与14号染色体易位导致dup(4p15至4pter)。
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引用本文的文献
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Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome.
Hum Genet. 1994 Apr;93(4):471-3. doi: 10.1007/BF00201679.
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Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.15号染色体异常与普拉德-威利综合征：细胞遗传学分析
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Unbalanced reciprocal translocations in cases of Prader-Willi syndrome.普拉德-威利综合征病例中的不平衡相互易位
Hum Genet. 1984;67(2):156-61. doi: 10.1007/BF00272991.
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