title: Molecular karyotyping of an isolated partial trisomy 11q patient with additional findings.
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.
authors: Gazi University Faculty of Medicine, Department of Medical Genetics, Besevler, Ankara, Turkey. gulsum-kayhan@hotmail.com
authors: Gülsüm
authors: G
authors: Kayhan
authors: Büsranur
authors: B
authors: Cavdarli
authors: Meral
authors: M
authors: Yirmibes Karaoguz
authors: E Ferda
authors: EF
authors: Percin
authors: Aysegül
authors: A
authors: Oztürk Kaymak
authors: Aydan
authors: A
authors: Biri
authors: M Ali
authors: MA
authors: Ergun
mesh_terms: D059786:Abnormal Karyotype; D000015:Abnormalities, Multiple / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics / Q000378:metabolism; D041321:Chromosomes, Human, X / Q000235:genetics / Q000378:metabolism; D002968:Clavicle / Q000002:abnormalities; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D007621:Karyotyping / Q000379:methods*; D020641:Polymorphism, Single Nucleotide; D014314:Trisomy / Q000235:genetics*