A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism.

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.

Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy.

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.

Surgery for acute abdomen and MEFV mutations in patients with FMF.

OBJECTIVES: Familial Mediterranean Fever (FMF) is an autosomal recessive disease characterized by recurrent fever, peritonitis, arthritis, pleuritis, and secondary amyloidosis. In the current study, we sought to determine the frequency of acute surgical abdominal intervention and MEFV gene mutations in FMF patients. PATIENTS AND METHODS: A total of 159 patients were referred to our department with a diagnosis of FMF. Twenty-six patients (16.4%) had a history of surgical intervention. Of these, 17 (10.7%) were operated on due to appendicitis, and 9 (5.7%) were operated on due to other acute abdomen reasons. Genomic DNA was isolated from the blood samples, and in the isolated DNA samples, 12 MEFV gene mutations were studied. RESULTS: Mutation frequency was detected to be 80.8% in the patients with acute abdomen surgery intervention and 56.4% in the patients without acute abdomen surgical intervention. Upon mutational evaluation of these patients, we noted that the M694V (40.5%) and E148Q (21.4%) mutations occurred most frequently. CONCLUSIONS: The MEFV gene mutation frequency in FMF patients with acute abdomen surgical intervention was significantly higher than that in patients without such intervention. Increased mutation scanning in FMF patients will significantly decrease unnecessary surgical interventions in this patient group.