RRML - Detection of chromosomal imbalances using combined MLPA kits in patients with syndromic intellectual disability

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Dr. Adrian Man

Nr. 22(2)/2014 DOI:10.2478/rrlm-2014-0019

Detection of chromosomal imbalances using combined MLPA kits in patients with syndromic intellectual disability

Detectarea dezechilibrelor cromozomiale folosind o combinație de kituri MLPA la pacienții cu dizabilitate intelectuală sindromică

Adriana Sireteanu, Roxana Popescu, Elena Emanuela Braha, Cornel Bujoran, Lăcrămioara Butnariu, Lavinia Caba, Elena Graur, Eusebiu Vlad Gorduza, Mihaela Grămescu, Iuliu Cristian Ivanov, Monica Pânzaru, Cristina Rusu


Intellectual disability (ID) is a common disorder, with major consequences for individual, family and society. Due to clinical and genetic heterogeneity of ID, in about 50% of cases an etiologic diagnosis cannot be established. The aim of this study was to evaluate the ability of a combination of MLPA kits to establish the diagnosis in 369 patients with syndromic ID and normal or uncertain routine karyotype results. All patients were assessed for chromosome imbalance using SALSA MLPA P064 or P096 kits, if the phenotype was suggestive of a microdeletion syndrome (subgroup A - 186 patients), or subtelomeric P036 and P070 kits, if the phenotype was not suggestive of a microdeletion syndrome or if the result of the standard karyotype was uncertain (subgroup B - 183 patients). Abnormal results detected by these kits were further characterized using appropriate follow-up MLPA kits (Telomere Follow-up set, P029-A1, P250-B2, ME028-B1). In subgroup A we identified 25 patients with microdeletions (13.4%). Using subtelomere screening and follow-up kits in subgroup B we detected cryptic rearrangements in 7.5% cases and identified the origin of the unknown material noticed in the standard karyotype in 10 out of 11 patients. Summarizing data from the two groups, the combined use of MLPA kits led to the diagnosis in 10.6% (38/358) patients with normal karyotype. Using follow-up MLPA kits allowed us both to confirm abnormalities and to determine their size, which facilitated the interpretation of the clinical significance of these rearrangements. For laboratories that do not have yet access to microarray technology, using several MLPA kits represents an effective strategy for establishing the diagnosis in ID patients.

Keywords: Intellectual disability, subtelomeric rearrangements, microdeletion syndromes, MLPA

Received: 4.4.2014
Accepted: 18.5.2014
Published: 27.5.2014

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How to cite
Sireteanu A, Popescu R, Braha EE, Bujoran C, Butnariu L, Caba L, et al. Detection of chromosomal imbalances using combined MLPA kits in patients with syndromic intellectual disability. Rev Romana Med Lab. 2014;22(2):157-64. DOI:10.2478/rrlm-2014-0019