Preparation of metaphase spreads from chorionic villus samples.

Chorionic villi are composed of an outer layer of trophoblastic cells and an inner mesenchymal cell core, both of fetal origin. Cytogenetic analysis of chorionic villi can be accomplished using material prepared in either of two ways. In the culture method described in this unit, villi are disaggregated by mechanical and enzymatic methods, and the resulting cell suspension is used to establish primary cultures. Mesenchymal cells of the villus core are released by this procedure and the fibroblasts are actively proliferative in tissue culture. Cultures can be used for cytogenetic analysis after 1 week. In the "direct" technique, presented here in an Alternate Protocol, Langhans cells of the cytotrophoblast, actively dividing cells in first-trimester villi, are synchronized and arrested in mitosis after a short incubation period, and metaphase spreads are prepared. Chorionic villi are composed of an outer layer of trophoblastic cells and an inner mesenchymal cell core, both of fetal origin.

de Lange syndrome: a clinical review of 310 individuals.

Three hundred ten individuals with a clinical diagnosis of de Lange syndrome were seen and examined in conjunction with the parent support group. One hundred thirty-four males and 176 females whose ages ranged from birth to 37 years made up the study group. Examination findings were recorded for those features described by de Lange in her original report of the syndrome to determine the frequency and significance of each. In addition, questionnaires were completed by 128 of these families and medical, growth and developmental records were collected. The clinical diagnosis seems best supported by the facial features of the syndrome including the long eyelashes and confluent eyebrows (synophrys), although additional characteristics are needed. Only 27% had the upper limb deficiencies commonly associated with the syndrome. Growth was retarded in nearly all individuals, often of prenatal onset. Medical problems occurred frequently and most often involved the eye and ear, as well as the cardiac and gastrointestinal systems. Of 14 deaths, almost half were secondary to cardiac or gastrointestinal complications. The recurrence risk in 377 sibs of the patients was calculated to be less than 1%. Although development lagged significantly in speech, most individuals developed good self-help skills. The study demonstrated a higher proportion of patients affected mildly with the syndrome than is commonly appreciated. This underscores the importance of early recognition and appropriate medical and developmental support.

Diagnosing attention-deficit hyperactivity disorder and learning disabilities with chemically dependent adolescents.

The diagnosis and treatment of chemically dependent adolescents with a second diagnosis of learning disabilities (LD) or an attention-deficit hyperactivity disorder (ADHD) poses a challenge. Like other so-called dual diagnoses, these conditions must be assessed against the background "noise" of the adolescent chemical dependency syndrome. This syndrome is coincident with the onset and cessation of chemical dependence and abuse. A diagnostic framework for assessing chemically dependent adolescents is presented, with specific reference to the differential diagnosis of LD and ADHD from other conditions. The role of LD and ADHD is assessed with regard to being a risk factor for chemical dependence in adolescence. Treatment approaches, on both an inpatient and outpatient basis, with the chemically dependent adolescent who also has an LD or ADHD are discussed.

A simple technique for obtaining high quality chromosome preparations from chorionic villus samples using FdU synchronization.

A fluorordeoxyuridine (FdU) synchronization technique was applied to 30 chorionic villus samples (CVS) from patients undergoing first trimester fetal diagnosis. The villi were incubated for 15 h in the presence of FdU. The block in DNA synthesis was subsequently released using thymidine and after an additional 5 h of incubation the mitotic cells were arrested in metaphases using a high concentration of colcemid. This method results in improved morphology of the chromosomes and a high mitotic index. A diagnostic chromosome analysis could be obtained in each clinical case using at least 15 well-spread metaphases. G-banded karyotypes were prepared of four metaphases in each case. The diagnostic procedure was completed within 48 h from the time of CVS. Use of this technique significantly improves the success rate of 'direct' chromosome analyses from CVS in a busy cytogenetic laboratory.