Regional mapping panels for chromosomes 3, 4, 5, 11, 15, 17, 18, and X.

The NIGMS Human Genetic Mutant Cell Repository collects and distributes well-characterized human/rodent somatic cell hybrid regional mapping panels for human chromosomes 3, 4, 5, 11, 15, 17, 18, and X. Each regional mapping panel consists of 4 to 11 hybrids that divide the chromosome into 5 to 11 intervals. These panels have been extensively characterized by the submitters and the NIGMS Repository.

Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy.

Hypophosphatasia features selective deficiency of activity of the tissue-nonspecific (liver/bone/kidney) alkaline phosphatase (ALP) isoenzyme (TNSALP); placental and intestinal ALP isoenzyme (PALP and IALP, respectively) activity is not reduced. Three phosphocompounds (phosphoethanolamine [PEA], inorganic pyrophosphate [PPi], and pyridoxal 5'-phosphate [PLP]) accumulate endogenously and appear, therefore, to be natural substrates for TNSALP. Carriers for hypophosphatasia may have decreased serum ALP activity and elevated substrate levels.

NIGMS human/rodent somatic cell hybrid mapping panels 1 and 2.

The NIGMS Human Genetic Mutant Cell Repository is currently distributing two well-characterized human/rodent somatic cell hybrid mapping panels. Mapping Panel 1 consists of DNA isolated from 18 hybrid cell cultures retaining from 1 to 19 human chromosomes. Mapping Panel 2 contains DNA from hybrids retaining 1 or 2 human chromosomes.

Intrauterine cytomegalovirus infection presenting as fetal meconium peritonitis.

Recent reports have suggested that focal hyperechoic abdominal masses detected during the second trimester may represent a normal variation in fetal intestinal development that is transient in nature and not associated with pathologic conditions. The patient described here had second-trimester ultrasonic findings of fetal meconium peritonitis without ascites, polyhydramnios, or other anomalies. Subsequent ultrasound examinations at 22, 30, and 36 weeks demonstrated no change in the abdominal appearance.