We present a 12-year-old girl with de novo karyotype 46,XX,del(12)(p11.1p12.1). Array CGH revealed in addition to a 10.466 Mb interstitial deletion on 12p11.1→12p12.1 a 0.191 Mb deletion on 2p16.3. The girl presented with mild facial dysmorphism consisting of microcephaly, hypertelorism, downslanting palpebral fissures, strabismus, broad nasal base, bulbous nose, short philtrum, micro/retrognathia, irregular tooth arrangement, phalangeal deformity in distal phalanges of hands, 5th finger camptodactyly, brachydactyly in feet, history of joint hypermobility, and scoliosis. She was considered to have mild to moderate mental retardation and ascertained for an autism spectrum disorder(ASD). Short arm of chromosome 12 interstitial deletions are rarely reported whereas point mutations and deletions of NRXN1, which is located on chromosome 2p16.3, are associated with ASDs. In this article we present and discuss the phenotypic consequences of a patient who was affected by deletions of two different chromosomal regions.

We present the clinical and molecular findings in a Turkish child with a de novo mosaic ring derived from chromosome 4 with multiple cell-lines; the karyotype was 46,XY,r(4)[83]/45,XY, -4[6]/47,XY,r(4),+r(4)[5]/48,XY,r(4),+r(4),+dic r(4)[1]/46,XY[5]. The patient is a 20-month-old male who was the first pregnancy of nonconsanguineous parents. The baby was delivered at term with a birth weight of 1,700 g (<3rd centile) and a length of 46 cm. The baby had feeding difficulties and vomiting problems. He started walking at age 2 years and delayed language was observed. Facial appearance was normal, but the ears were large with abnormal structure. The hands showed bilateral clinodactyly of the 5th fingers. He had mild mental retardation, and epilepsy. Analysis of chromosomes showed 46,XY,r(4)(::p16.3 --> qter::)[67]/46,XY,r(4;4)(::p16.3 --> qter::p16.3 --> qter::)[2]/46,XY[3] by multicolor banding (MCB) technique. Array CGH delineated the size of the terminal deletion as 900 kb in 4p16.3. The Wolf-Hirschhorn critical region was preserved even though our patient had mild mental and motor retardation. While the mosaicism of the ring 4 could affect the phenotype, the deleted 900 kb distal deletion and clinical features of the patient may provide further insight into characteristic phenotype of the 4p- related syndromes.

ABSTRACT. We present a 12-year-old girl with karyotype 46,XX. A comparative genomic hybridization array revealed a 3.172-Mb microduplication on 22q11.2. This chromosome 22q11.2 region microduplication has been described in patients with variable phenotypes; a large majority of them have identical 3-Mb duplications. The girl presented mild mental motor retardation, facial dysmorphism consisting of a long narrow face, widely spaced eyes, downslanting palpebral fissures, broad nasal base, short philtrum, thin upper lip, micro/retrognathia, low set and retroverted ears, microcephaly, higharched palate, hypoplastic teeth, and hypernasal speech. She had delayed psychomotor development and behavioral problems. Molecular characterization of patients differs greatly among reports and detailed molecular characterization and documentation are needed to better understand the effects of these duplications. This description of the phenotype of a patient with microduplication on 22q11.2 will contribute 2149 ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 10 (3): 2148-2154 (2011) Hypernasal speech and 22q11.2 microduplication to the growing knowledge regarding deletions and duplications of the 22q11.2 region; this is important to conclude whether 22q11.2 duplication is a microduplication syndrome or not.

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Visfatin is a novel adipocytokine, which is suggested to play a role in kidney diseases. We hypothesized that diabetics with diabetic nephropathy may have a different gene profile and this study was performed to evaluate the association between visfatin gene promoter region SNPs and diabetic nephropathy. Realtime PCR was used to study SNPs (1001T/G, 423A/G, 1535C/T) of the visfatin gene promoter region in 30 type 2 diabetics with nephropathy, 30 type 2 diabetics without nephropathy, and 30 healthy volunteers who served as control. Routine biochemical parameters, serum insulin, TNF-α, urinary protein and microalbumine were tested in subjects. Insulin resistance was evaluated by the HOMA method. Non-heterozygotes for the SNPs 423 A/G and 1001 T/G had significantly less risk of having nephropathy (for each group odds ratio 0.181 with 95% confidence interval:0.048-0.674). They also had lower serum visfatin levels than subjects with AA and TT genotypes (P=0.035 and P=0.030, respectively). We could not find any relationship between genotype and gender, BMI, HOMA-IR score, HbA1c, proteinuria, serum lipid and TNF-α levels. The two SNPs, 1001 T/G and 423 A/G were in perfect linkage disequilibrium. We, therefore, suggest that visfatin gene polymorphisms may increase the tendency to diabetic nephropathy