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• W1978996819 abstract "Isolated partial duplication of the long arm of chromosome 11 is very rare. The main features are dysmorphic facial features, pre/postnatal growth retardation, speech delay, mental retardation, hypotonia, microcephaly, and cardiac, vertebral, limb and genital anomalies. In this case, we report a patient with partial trisomy of 11q13.5→qter due to a de novo rearrangement consisting of the whole X chromosome and part of chromosome 11; 46,X,der(X)(Xqter→Xp22.33::11q13.5→11qter). Additional findings were a separated clavicle, lacrimal duct stenosis and prenatally detected renal hypoplasia. SNP array results revealed a duplication between 11q13.5 and 11qter, measuring 58 Mb, from nucleotide 76,601,607 to 134,926,021. As a result, molecular karyotyping could be performed in such cases in order to establish a definite phenotype-genotype correlation using conventional or molecular cytogenetics techniques." @default.
• W1978996819 created "2016-06-24" @default.
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• W1978996819 date "2013-07-01" @default.
• W1978996819 modified "2023-09-24" @default.
• W1978996819 title "Molecular karyotyping of an isolated partial trisomy 11q patient with additional findings" @default.
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• W1978996819 doi "https://doi.org/10.1016/j.gene.2013.04.053" @default.
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