Molecular karyotyping of an isolated partial trisomy 11q patient with additional findings

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 pat...

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Bibliographic Details
Published in:Gene 2013-07, Vol.524 (2), p.355-360
Main Authors: Kayhan, Gülsüm, Cavdarli, Büsranur, Yirmibes Karaoguz, Meral, Percin, E. Ferda, Oztürk Kaymak, Aysegül, Biri, Aydan, Ergun, M. Ali
Format: Article
Language:English
Subjects:
Abnormal Karyotype
Abnormalities, Multiple - genetics
Array
Chromosomes, Human, Pair 11 - genetics
Chromosomes, Human, Pair 11 - metabolism
Chromosomes, Human, X - genetics
Chromosomes, Human, X - metabolism
Clavicle - abnormalities
Clavicular defect
Female
Genetic Association Studies
growth retardation
Humans
Infant
karyotyping
Karyotyping - methods
Lacrimal duct stenosis
Partial trisomy 11q
patients
Polymorphism, Single Nucleotide
Renal hypoplasia
single nucleotide polymorphism
speech
trisomics
Trisomy - genetics
X chromosome
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Summary: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 58Mb, 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. •A patient with isolated partial trisomy of 11q13.5→qter•SNP array results revealed a duplication with a size of 58Mb.•Additional findings are separated clavicle, lacrimal duct stenosis renal hypoplasia.
ISSN:0378-1119
1879-0038
DOI:10.1016/j.gene.2013.04.053