A newborn girl with ring chromosome 1 is described. The letter reports the chromosome analysis of peripheral blood lymphocytes with 46,XX,r(1)(p36.3q44) and evidence of ring instability in umbilical cord fibroblasts.

Duplication 9p syndrome is a clinically well described syndrome characterized by growth retardation, developmental delay, skeletal malformations and craniofacial anomalies. We report a family starting with a male infant born by c-section at 39 weeks gestation to a 38 yo G6 P 4-0-1-4. The pregnancy was remarkable for an abnormal MSAFP placing the pregnancy at a 1:17 risk for Down Syndrome. The parents refused amniocentesis after receiving genetic counseling. At 35 weeks gestation a fetal ultrasound demonstrated mild polyhydraminos, borderline hydrocephalus, and a unilateral right pyelectasis along with a proximal hydroureter. The patient had an unremarkable delivery at an outside institution with Apgars of 9 and 10. Birth weight was 4790g (>95%). Ten hours post delivery the patient began to develop significant lymphedema of the right lower extremity which is what brought him to our attention. On presentation the patient appeared with bitemporal narrowing, short palpebral fissures, and small deep set eyes. The right extremity showed significant edema involving the foot extending to the distal portion of the thigh. An x-ray of the extremity showed no fracture. A cat scan of the head demonstrated diffuse cerebral volume loss with a slightly promineni left ventricle when compared to the right. A small left subdural hygroma was also noted A cardiac echocardiogram and a renal ultrasound were both normal. Cytogenetic study on peripheral blood lymphocytes revealed additional material on 9p. A FISH paint for chromosome 9 indicated that the extra material was duplication of 9. The G-banding pattern suggested duplication of 9p13p22. Peripheral blood was obtained from both parents and an identical karyotype was found in the mother. The mother was noted to have similar phenotvpic features to the proband, namely short palpebral fissures and small deep set eyes. The mother reported having a learning disability as a child completing only a 9th grade education. Further family history showed the mother to have three other children all with another partner ages 11, 16, and 19 years of age. All 3 half siblings to the proband are reported as “slow”. These siblings are currently being worked up cytogenetically. Since first described m 1970. more than 100 cases have been reported with a duplication involving various size segments of the 9p chromosome. Familial cases have been reported with much less frequency. The clinical features and cytogenetic findings as compared to previous reported cases will be presented.

Melanocytic lesions with borderline features are diagnostically challenging. Single-nucleotide polymorphism (SNP) arrays, which detect genomic copy number alterations (CNAs), can be helpful in distinguishing between nevi and melanoma. Fluorescence in situ hybridization (FISH) has been used as a more rapid, less expensive alternative to SNP array, using a panel of probes that are often gained or lost in melanoma. We used SNP array data from 63 borderline cutaneous melanocytic lesions and 44 definitive melanomas to predict the performance of FISH testing. Lesions were considered positive by “virtual FISH” if 1 or more of the 5 FISH-probed loci demonstrated appropriate CNAs by SNP array. Cases were classified as positive by SNP array if ≥3 CNAs were present, based on internal validation studies, or if FISH criteria were met. Conventional FISH was performed in 33 cases (17 borderline lesions, 16 melanomas). Of the 63 borderline cases, 44 (70%) were positive by SNP array and 30 (48%) were positive by virtual FISH. A higher proportion of melanomas were positive by SNP array (41/44, 93% sensitivity) and virtual FISH (36/44, 82% sensitivity). Virtual FISH had 61% sensitivity in the borderline group using SNP array as the gold standard, whereas specificity was 84%. There was good correlation between conventional and virtual FISH, with agreement in 30 of 33 (91%) cases. Although FISH is highly effective in distinguishing between nevi and melanoma in cases where the histological diagnosis is straightforward, it is not nearly as sensitive or specific as SNP array when applied to borderline lesions.

Cloud property retrievals from 3 decades of the Advanced Very High Resolution Radiometer (AVHRR) measurements provide a unique opportunity for a long-term analysis of clouds. In this study, the accuracy of AVHRR-derived cloud properties cloud mask, cloud-top height, cloud phase and cloud liquid water path is assessed using three state-of-the-art retrieval schemes. In addition, the same retrieval schemes are applied to the AVHRR heritage channels of the Moderate Resolution Imaging Spectroradiometer (MODIS) to create AVHRR-like retrievals with higher spatial resolution and based on presumably more accurate spectral calibration. The cloud property retrievals were collocated and inter-compared with observations from CloudSat, CALIPSO and AMSR-E The resulting comparison exhibited good agreement in general. The schemes provide correct cloud detection in 82 to 90% of all cloudy cases. With correct identification of clear-sky in 61 to 85% of all clear areas, the schemes are slightly biased towards cloudy conditions. The evaluation of the cloud phase classification shows correct identification of liquid clouds in 61 to 97% and a correct identification of ice clouds in 68 to 95%, demonstrating a large variability among the schemes. Cloud-top height (CTH) retrievals were of relatively similar quality with standard deviations ranging from 2.1 km to 2.7 km. Significant negative biases in these retrievals are found in particular for cirrus clouds. The biases decrease if optical depth thresholds are applied to determine the reference CTH measure. Cloud liquid water path (LWP) is also retrieved well with relative low standard deviations (20 to 28 g/m2), negative bias and high correlations. Cloud ice water path (IWP) retrievals of AVHRR and MODIS exhibit a relative high uncertainty with standard deviations between 800 and 1400 g/m2, which in relative terms exceed 100% when normalized with the mean IWP. However, the global histogram distributions of IWP were similar to the reference dataset.MODIS retrievals are for most comparisons of slightly better quality than AVHRR-based retrievals. Additionally, the choice of different near-infrared channels, 3.7 μm as opposed to 1.6 μm, can have a significant impact on the retrieval quality, most pronounced for IWP, with better accuracy for the 1.6 μm channel setup. This study presents a novel assessment of the quality of cloud properties derived from AVHRR channels, which quantifies the accuracy of the considered retrievals based on common approaches and validation data. Furthermore, it assesses the capabilities of AVHRR-like spectral information for retrieving cloud properties in the light of generating climate data records of cloud properties from three decades of AVHRR measurements.

Eighty-nine low-birthweight, preterm infants were enrolled in a longitudinal study to describe motor development, infantile reactions and postural responses during the first chronological year of life and to determine the relationship between these behaviors. There was a clear trend from prevalence of primitive patterns, such as the asymmetric tonic neck reflex, towards a prevalence of mature postural reactions such as the Landau, righting and protective extension reflexes. Statistical analysis suggested that a relationship exists between infantile patterns, automatic postural reactions and motor development that is similar to that accepted as normal in term infant development, when allowance is made for preterm birth. Correlations were also obtained between integration of the tonic labyrinthine response and the presence of the asymmetric tonic neck pattern at the time of hospital discharge and later achievement of motor milestones. These relationships warrant further investigation.

Chemiluminescent (CL) assays are used to measure the oxidative function of polymorphonuclear leukocytes (PMNs). These assays generally require 105 to 107 PMNs per measurement. We report the development of a novel CL assay of PMN oxidative function for which only 104 PMNs per measurement are required. Using this assay, we confirm the observations of others that preterm neonatal PMNs have defective oxidative function. We suggest that these defects may be due to both oxidative damage to the PMN membrane as well as other metabolic defects, as yet unidentified. This assay can be used for more extensive studies of neonatal PMN function as the amount of sample blood required for multiple measurements is minimized (0.50 ml).