[On electric potential along the plant stem].

Electric potential difference along the stem of Pelargonium zonale plant has been measured. Three relaxation time values have been established. They correspond to different types of interelectrode space polarization (ion, ion-molecular, combined molecular-associative).

Monosomy 18q12.1----21.1: a recognizable aneuploidy syndrome? Report of a patient and review of the literature.

This report of a patient with an interstitial deletion 18q and review of previously described cases suggest a clinically recognizable syndrome. The phenotype appears to result from a microdeletion of part of 18q12.2 or q12.3, or a deletion of parts of both bands.

Molecular and cytogenetic investigation of complex tissue-specific duplication and loss of chromosome 21 in a child with a monosomy 21 phenotype.

Several recent molecular studies have suggested that the clinical phenotype of Down syndrome may be due to triplication of 21q22 [McCormick et al., 1989] as initially suggested by Niebuhr [1974], and perhaps just 21q22.2 [Korenberg et al., 1989, 1990; Rahmani et al., 1989]. Recently, we studied a patient with a phenotype inconsistent with Down syndrome, whose lymphocyte karyotype on several occasions detected only 46,XX,-21, + dic(21)(qter----p11::p11----qter). Combined karyotype and molecular studies on both lymphocytes and fibroblasts allowed correct identification of the abnormality as a complex monosomy/trisomy 21 mosaicism involving a marker derived from idic (21) (p11), and probable assignment of a maternal origin for the error(s). The patient's phenotype was found to be most consistent with monosomy 21. Detailed study of our patient underscores (1) the need for confirmation that there is phenotype/karyotype correlation and (2) the usefulness of molecular analyses to complement the cytogenetic interpretation of marker chromosomes.

Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker.

We describe a "new" mild malformation of the phalanx, which we call the "angel-shaped phalanx" (ASP) because of its resemblance to the little angels used for the decoration of Christmas trees. A particular middle phalangeal type of ASPs is found in a distinct variety of multiple epiphyseal dysplasia with marked retardation of bone age and severe coxarthrosis in adult life, previously reported as "hereditary peripheral dysostosis" [Bachman, 1967: Proc R Soc Med 60:21-22; Giedion, 1969: Fortschr Rontgenstr 110:507-524]. However, these authors overlooked the unique configuration of the middle phalanges. We renamed the condition "angel-shaped phalango-epiphyseal dysplasia (ASPED)", which may be transmitted in an autosomal-dominant manner. Six new patients are added, bringing the total to nine patients (two families and two isolated patients). ASPs were seen in five of six children. The ASPs grew into inconspicuous brachydactyly after physeal closure (3/3). The most important additional radiological finding is late and dysplastic development of both femoral heads (5/5), leading to Perthes-like and osteoarthritic changes and severe hip pain in the early thirties (2/2 adults, having reached this age). The marked retardation of carpal bone age may lead to unnecessary clinical evaluation for endocrine disorders. Less frequent clinical manifestations of ASPED are hyperextensibility of the interphalangeal joints (7/9) and hypodontia (4/7). Other types of ASPs are observed in brachyphalangy type C, spondylo-megepiphyseal-metaphyseal dysplasia, and other conditions. The concept of mild bone abnormalities as specific markers for genetic disease, as with cone-shaped epiphyses and now evident in ASPED, may also be useful for ASPs in general.

CT of the temporal bone in a patient with osteopathia striata and cranial sclerosis.

The authors present a case of congenital dysplasia affecting the long bones, skull, and other systems in a 7-year-old girl, with special attention to CT of the temporal bone, which showed abnormal ossicle fixation, a narrowed Eustachian canal, thickened sclerotic bone, and a small mastoid antrum and middle ear cavity. CT of the temporal bone can help one distinguish the etiologies of hearing loss associated with this disorder.

Genetic counseling impacts decision for prophylactic surgery for patients perceived to be at high risk for breast cancer.

BACKGROUND: This study addresses the impact a comprehensive genetic counseling program had on women considering prophylactic mastectomy or oophorectomy. METHODS: Sixty patients underwent detailed family evaluation and risk was estimated. Recommendations were made regarding testing. Ramifications of testing were discussed in detail. RESULTS: Thirty-one women (37%) were considering prophylactic surgery believing themselves to be at high risk. Of these, 23 had testing recommended. Seven patients proceeded with prophylactic surgery based solely on high-risk assessment. Ten women were tested; five were positive. Three patients proceeded with prophylactic surgery despite a negative test. One decided against surgery despite a positive test. After counseling, prophylactic surgery was performed in just over half the initial candidates. CONCLUSIONS: Breast cancer risk estimation and genetic evaluation can be complex. Comprehensive genetic risk assessment programs can play a significant role in the management of patients considering prophylactic surgery for perceived high risk.

Triple marker screening in native Japanese women.

Prenatal screening using the maternal serum markers alpha-fetoprotein, human chorionic gonadotropin, and unconjugated oestriol was investigated in a native Japanese population. Comparison with a Caucasian U.S. population revealed differences which led to modification of the generally used equations for risk calculations. Prenatal screening was shown to be clinically useful.