A. Caroline Berry

Deletion of chromosome 3q proximal region gives rise to a variable phenotype

We report two new cases with interstitial deletions of chromosome 3. Both had breakpoints established as q 12q21. Despite an apparently identical abnormal karyotype, their phenotypes were different although hypotonia, severe developmental delay, lack of speech, high arched palate and pointed chin were common features. One patient had corpus cajlosum agenesis (ACC), also present in two of the only four previously reported cases with a deletion in this region.

FALSE POSITIVE ACETYLCHOLINESTERASE GEL TEST

SIR,—While agreeing with your calling for a re-examination of the conventional 5-10 day course of chemotherapy for acute urinary infections (Jan. 3, p. 26) I was surprised at the omission of the ultralong-acting drug sulfametopyrazine from consideration as a single dose therapy. Like the pharamacologically similar agent sulfadoxine, sulfametopyrazine produced satisfactory cure rates in both

Case Report: Partial trisomy of 15q due to inserted inverted duplication

A de novo abnormal chromosome 15, with an inverted duplication of the segment (15q13.3 → 15q21.3) at 15q24.3, was found in a boy with mild developmental delay, facial dysmorphism, Marfan‐like appearance and severe language delay. There is an unusual disparity between the severe lack of speech and the presence of reasonable skills in other areas.

COMPOUND HETEROZYGOUS MUTATIONS OF THE LUTEINIZING HORMONE/CHORIONIC GONADOTROPIN RECEPTOR GENE IN A FAMILY WITH TWO CHILDREN AFFECTED BY LEYDIG CELL HYPOPLASIA (LCH). • 387

COMPOUND HETEROZYGOUS MUTATIONS OF THE LUTEINIZING HORMONE/CHORIONIC GONADOTROPIN RECEPTOR GENE IN A FAMILY WITH TWO CHILDREN AFFECTED BY LEYDIG CELL HYPOPLASIA (LCH). • 387

Chromosome Analysis and Buccal Smear

Publisher Summary This chapter describes methods for chromosome analysis and buccal smear. The lymphocytes are cultured by taking small aliquots of whole blood and adding them to culture medium and incubating at 37°C for 2½ –3 days. After incubation, the cultures are terminated. Colcemid is added for about 1½ h to arrest the cells at the stage of cell division to maximize the number of metaphases present. Later the cells are harvested by a series of centrifugations and washings and the final suspension is used to make slides. Making good cell preparations is essential for accurate cytogenetic results and requires skill and experience in getting the chromosomes to spread out clearly. Simple orcein stain can be used where only a chromosome count is necessary; however, at present so many chromosome abnormalities are recognized, even where the actual number is normal, most laboratories use the Giemsa banding technique , which allows identification of individual chromosomes and the delineation of small deletions, insertions, and rearrangements.