Chih-Ping Chen

Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3:1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2)

A female fetus with bilateral renal agenesis and fetal ascites was found to have partial trisomy 13 (pter–q12.3) and partial trisomy 16 (p13.2–pter), 47,XX,+der(13)t(13;16)(q12.3; p13.2)mat. The chromosomal aberration was due to a 3:1 segregation with tertiary trisomy transmitted from a maternal reciprocal translocation 13;16. Prenatal ultrasound of a 29‐year‐old, gravida 2, para 0 woman at 22 gestational weeks showed fetal ascites, severe oligohydramnios and non‐visualization of fetal urinary bladder and kidneys. The pregnancy was terminated. At delivery, the proband displayed dysmorphic features of hypertelorism, a prominent glabella, epicanthic fold, a stubby nose with a depressed nasal bridge, anteverted nares, thin lips, micrognathia, low‐set ears, a short neck and a distended abdomen. Necropsy confirmed bilateral renal agenesis and ascites. A cytogenetic study performed on fibroblasts obtained from the probands skin revealed an extra supernumerary chromosome. The mother was later found to have a reciprocal translocation. Fluorescence in situ hybridization for a submicroscopic deletion in chromosome 22q11 in the proband was negative. The parents had no urological anomalies. Our observation further extends the clinical spectrum associated with proximal trisomy 13q and distal trisomy 16p. We suggest prenatal cytogenetic analysis in fetuses with urological anomalies, including renal agenesis, to uncover underlying genetic disorders. Copyright

Hamartoma in a pubertal patient with complete androgen insensitivity syndrome and R(831)X mutation of the androgen receptor gene

Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder. Individuals with CAIS ordinarily have normal breast development, pubertal feminization, bilateral testes, female external genitalia, a blind-ended vagina, and no mullerian derivatives. The actual frequency of malignant gonadal tumors among this group has been estimated to be no more than 5%; the risk of gonadal malignancy in CAIS is considered low in women before 25 years of age (1). Benign tumors such as hamartomas, Sertoli cell adenomas, and, rarely, Leydig cell tumors have been reported in association with CAIS (1).

Purification of phospholipase C from rat cerebral cortex.

Phospholipase C from rat cerebral cortex was purified to homogeneity by use of DEAE Bio-Gel A agarose, hydroxyapatite, and heparin agarose chromatography. The purified phospholipase C (PLC) was purified 622.4-fold and its molecular weight is estimated to be 97,500. We obtained a final specific activity of 3.112 mumol of phosphatidylinositol hydrolyzed/min/mg of protein. It is specific for inositol phospholipids. The purified enzyme has an apparent optimum pH 7.0. Calcium is required for its activity. Western blotting analysis showed that two proteins were recognized by anti-PLC antiserum.

PURIFICATION OF CHLORPROMAZINE-SENSITIVE GTPASE FROM RAT CEREBRAL CORTEX

The chlorpromazine-sensitive GTPase from the cell membrane of rat cerebral cortex was purified to homogenity by using DEAE Bio-Gel A agarose, hydroxyapatite and heparin agarose chromatography. The purified chlorpromazine-sensitive GTPase was purified 370-fold to obtain a final specific activity of 40 mumol GTP hydrolyzed2min/mg protein. The purified enzyme was inhibited by chlorpromazine but not by compound 48/80. Magnesium was required for its activity instead of calcium. The purified enzyme had an apparent pH optimum of 8.0, and molecular weight was estimated to be 58,000.