Shprintzen-Goldberg syndrome: a clinical analysis.

Shprintzen-Goldberg syndrome is one of a group of disorders characterized by craniosynostosis and marfanoid habitus. Eleven cases were reported previously. We present 4 new patients and review one of the patients of the original report of Shprintzen and Goldberg [1982: J Craniofac Genet Dev Biol 2:65-74], 15 years later. The clinical and radiologic findings on our patients are compared with those of the previously reported patients and also with those of Furlong et al. [1987: Am J Med Genet 26:599-604] and Lacombe and Battin [1993: Clin Dysmorphol 2: 220-224], who share many of the characteristics of Shprintzen-Goldberg syndrome. Some of the clinical data are helpful in determining if the patients of Furlong et al. [1987: Am J Med Genet 26:599-604] and Lacombe and Battin [1993: Clin Dysmorphol 2: 220-224] have a separate syndrome or represent a variant of Shprintzen-Goldberg syndrome. However, radiologic investigations appear to be more specific, since an abnormality of the first and second cervical vertebrae, hydrocephalus, dilatation of the lateral ventricles, and a Chiari-I malformation of the brain were found only in the patients with Shprintzen-Goldberg syndrome. The apparently diagnostic findings of the 15 patients with this syndrome may be helpful in differentiating between Shprintzen-Goldberg syndrome and other syndromes with craniosynostosis and marfanoid habitus.

Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21.

The association between trisomy 21 and a high incidence of atrioventricular canal defects (AVCDs) indicates that a locus on chromosome 21 is involved in this congenital heart defect. We have investigated whether a genetic locus on chromosome 21 is also involved in familial nonsyndromic AVCDs. Short tandem repeat polymorphisms (STRPs) from chromosome 21 were used for linkage analysis of a family having multiple members affected with AVCDs. In this family, the gene for AVCDs is transmitted as an autosomal dominant with incomplete penetrance. The affected family members are nonsyndromic and have normal karyotypes. Two-point and multipoint linkage analyses produced significantly negative LOD scores for all informative markers. A comparison of the overlapping exclusion distances obtained for each marker at LOD equal -2.0 with the 1000:1 consensus genetic map of the markers, excludes chromosome 21 as the genetic location for AVCDs in this family. The exclusion of chromosome 21 indicates that another gene, not located on chromosome 21, is involved in atrioventricular canal defect formation.

Double minute chromosomes. A bone marrow indicator of neuroblastoma metastasis and relapse: two case reports.

Two cases of childhood neuroblastoma are presented. Case 1 was diagnosed as Stage IV with metastasis to the bone marrow. During remission, histologic studies of bone marrow aspirate and biopsy showed a normocellular marrow with no evidence of malignant cells. Concurrent cytogenetic studies of the bone marrow showed the majority of the cells to contain double minute chromosomes (DM). The chromosome findings indicated the presence of neuroblastoma cells in the marrow prior to histologic evidence of relapse. Case 2 was diagnosed as Stage I neuroblastoma with no metastasis to the bone marrow. Subsequent cytogenetic studies showed DM present in a small number of cells and a deletion of chromosome 1 (1p-) in a single cell. The chromosome findings indicated an advanced stage of malignancy which was not evident with histologic techniques. These findings suggest that cytogenetic analysis of bone marrow can be a valuable aid to the early diagnosis, prognosis, and treatment of neuroblastoma.

Brief clinical report: ring-11 chromosome: phenotype-karyotype correlation with deletions of 11q.

The cytogenetic evaluation of a female infant with congenital anomalies led to the identification of the second reported case of a ring-11 chromosome. Unlike the previously described case, in which the patient had only minimal clinical findings and no demonstrable loss of material from the ring, our patient had numerous anomalies that were associated with a substantial deficiency of 11q material. The different phenotypes in these two cases represent variation in the amount and location of the chromosomal material lost during the genesis of the ring. The manifestations of this patient and the deletion of region q24 leads to qter from the ring-11 identify a specific chromosome deletion syndrome referred to as del (11q) syndrome.