Elly Pijkels

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The recurrent microdeletion 15q24 syndrome is rare with only 5 cases reported thus far. Here we describe an additional patient with this deletion, presenting with many features common to this syndrome, including developmental delay, loose connective tissue, digital and genital anomalies and a distinct facial gestalt. Interestingly, in addition, this patient(More)
We report data on intelligence and on possibly associated psychopathology in 16 children and adolescents, between 7 and 18 years of age, with congenital or juvenile myotonic dystrophy. We found that all the subjects have an intelligence level below the population mean, four of them in the mentally retarded range. An unexpected number of subjects are in the(More)
Oculo-dento-digital dysplasia (ODDD) is an autosomal dominant disorder characterized by developmental anomalies of the face, the eyes, the limbs and the teeth. Patients with ODDD usually present with complete syndactyly of the fourth and fifth fingers (type III syndactyly), ocular changes, abnormalities of primary and permanent dentition and specific(More)
The cri du chat syndrome or 5p deletion syndrome is a well-delineated clinical entity and has an incidence of 1/50,000 in newborn infants. A de novo deletion is present in 85% of the patients. Ten to 15% are familial cases with more than 90% due to a parental translocation and 5% due to an inversion of chromosome 5. Although the size of the deleted segment(More)
We report on the identification of a 0.3 Mb inherited recurrent but variable copy-number gain at Xq28 in affected males of four unrelated families with X-linked mental retardation (MR). All aberrations segregate with the disease in the families, and the carrier mothers show nonrandom X chromosome inactivation. Tiling Xq28-region-specific oligo array(More)
By now it is well established that most, if not all, common microdeletion syndromes arise by unequal intra or interchromosomal recombination between intrachromosomal segmental DNA duplications (also called duplicons) flanking the microdeleted regions (reviewed by Lupski and Ji et al). In addition to the flanking duplicons, recent observations suggest that(More)
Intellectual disability (ID) comprises a vast collection of clinically diverse and genetically heterogeneous disorders characterized primarily by central nervous system defects of varying severity with or without additional dysmorphic, metabolic, neuromuscular or psychiatric features. Much progress has been made to elucidate the genetic causes for ID,(More)
We present five patients with the clinical diagnosis of Fountain's syndrome, an autosomal recessive entity with mental retardation, deafness, skeletal abnormalities and coarse face with full lips as cardinal features and review all cases reported so far. We report two new isolated cases, and present follow-up data on three previously reported patients. The(More)
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