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Golder N Wilson

Publications and source records attributed to Golder N Wilson.

5 recordsLinked to original sources
PubMed2005

Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype.

Chromosome deletions involving 1p36 are the most common known terminal rearrangements occurring at a frequency of approximately 1 in 5,000 live births. In contrast, duplications of the same region have been reported rarely. We describe a familial rearrangement der(1)del(1)(p36.33)dup(1)(p36.33p36.22) identified in a mother, daughter, and son. These individuals help define a syndrome with variable mental disability, attention deficit-hyperactivity disorder, and a distinctive facial appearance with wide palpebral fissures, broad nasal root, macrostomia, ear malformations, and prominent incisors. Based on our results we suggest that the complex rearrangement seen in our family could be the result of the breakage-fusion-bridge (BFB) cycles model of formation.

Adolescent↗
PubMed2003

Behavioral assessment of children with Down syndrome using the Reiss psychopathology scale.

The behavior of 60 children with Down syndrome (cDS), aged 4 to 21 years, was assessed by parent and teacher report using the Reiss psychopathology rating scale for dual diagnosis (mental disability plus mental illness). Standard forms contained 12 categories of abnormal behavior (e.g., Psychosis), each with five descriptive items (e.g., bizarre ideas) that could be scored as no problem, problem, and major problem (0, 1, or 2 points). Total scores for individual cDS (mean of two raters) ranged from 3 to 43 out of a potential 120 points, with a mean of 14.8 points and a standard deviation of 9.5. There were no significant differences by sex, age, or ethnicity. The highest aggregate scores among the 60 cDS were in the psychometric categories of Attention-Deficit (156 points), Anger/Self Control (154.5), and Psychosis (109) and for component items such as communication problems (55 points) under the Psychosis category; distracted (48.5) or disobedient (42.5) under the Attention-Deficit category; and temper tantrums (36.5), impulsive (32), or impatient (31.5) under the Anger/Self-Control category. Agreement between parent and teacher raters was over 75% for 38 of the 60 items and above 60% for an additional 15. Selection of cDS with scores over 10 points yielded 24 families who chose parental guidance and 14 who chose professional referral. The structure of the Reiss instrument was useful for cDS, distinguishing behaviors potentially related to medical problems from true psychopathology.

Adolescent↗
PubMed2003

Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former.

We describe a female infant with morphologic features of Rutledge multiple-congenital-anomaly syndrome (RMCAS) and biochemical features of Smith-Lemli-Opitz syndrome (SLOS). She had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral inner epicanthal folds, a broad nasal bridge with slightly anteverted nares and patent choanae, low set ears and complex conchal formation, high-arched palate and thick maxillary alveolar ridges, and micrognathia. Her chest was broad, genitalia were ambiguous, and uterus was bicornuate. Skeletal abnormalities included a hypoplastic appendicular skeleton, post-axial hexadactyly of the right hand and the left foot, syndactyly of bilateral 2nd-3rd toes and left 5th-6th toes, right talipes varus and left talipes valgus, and fused L5-S1 vertebrae. Congenital heart disease consisted of hypoplastic left heart, coronary sinus agenesis, ostium secundum and ostium primum defects, and a thickened septum primum. The lungs were hypolobated and the kidneys manifested oligopapillary hypoplasia. Total colonic Hirschsprung disease was noted microscopically. Analysis of liver tissue taken at postmortem examination revealed the ratio of 7-dehydrocholesterol and cholesterol to be 143 (expected, 0.28 +/- 0.28). Although initially described as a distinct syndrome, RMCAS was merged with the severe form of SLOS, because of significantly overlapping features [Online Mendelian Inheritance in Man (OMIM) #268670]. The biochemical data showing an excess of 7-dehydrocholesterol and low cholesterol in the liver tissue of our case supports this viewpoint.

Dehydrocholesterols↗