Language abnormalities and minimal physical anomalies in a boy with partial trisomy of chromosome 15.
Explore the source record for details and available documents.
Abnormalities, Multiple↗
Biomedical subjects
S J Moedjono
Publications and source records attributed to S J Moedjono.
Treatment of hyperargininaemia due to arginase deficiency with a chemically defined diet.
A brother and sister aged 11 and 17 years have been reported previously to have hyperargininaemia and arginase deficiency: they were treated with a semi-synthetic diet consisting of fat, carbohydrate, minerals, vitamins and essential amino acids in amounts equivalent to 0.55-0.65 g protein kg-1 day-1 for 2 years. Plasma arginine levels fell from 0.50-0.90 mumol/1 to 0.13-0.30 mumol/1 (normal range 0.02-0.15). Increased concentrations of arginine in the cerebrospinal fluid (CSF) fell from 0.069-0.098 mumol/l to 0.040-0.056 mumol/l (normal mean +/- SD = 0.020 +/- 0.006). Dibasic aminoaciduria returned to normal within 1 week. Substitution of the keto-acid analogues of five essential amino acids in the formula lowered arginine concentrations further, but proved to be unpalatable. Urinary concentrations of orotic acid, uridine and uracil fell toward normal but remained increased, even when the plasma ammonia concentration was measured as normal. Both patients showed a stable clinical improvement.
Adolescent↗
The campomelic syndrome in a singleton and monozygotic twins.
We describe here three patients with the campomelic syndrome, two of whom were identical twins. Both twins were phenotypically female but had an XY chromosome complement.
Abnormalities, Multiple↗
Tetrasomy 9p: confirmation by enzyme analysis.
A 4-day-old Caucasian male presented with midline defects of the skull and face and extensive skeletal malformations. Chromosome analysis of peripheral blood lymphocytes showed tetrasomy 9p (47,XY, + i(9p) with no evidence of mosaicism. Confirmation of the cytogenetic interpretation was obtained from the assay of the enzyme galactose-1-P uridyl transferase, the locus for which is on 9p, which showed twice the normal activity.
Abnormalities, Multiple↗
Familial pericentric inversion of chromosome 8 : is breakpoint p22q23 important in the formation of unbalanced recombinants?
A female infant with multiple congenital anomalies was ascertained to have 46,XX,rec(18)dup q, inv(8)(p23q22) through a carrier father with pericentric inversion of chromosome 8 (46,XY,inv(8)(p23q22). Comparison of the clinical and cytogenetic findings are made with previously published similar cases.
Chromosome Aberrations↗
Partial trisomy of 13(pter to q12) due to 47,XY, + der(13),t(13;22)(q12;q13)mat.
A 36-month-old boy presented with short stature, short neck, shield-shaped chest, and mental retardation. Chromosome analysis showed trisomy for the short arm and the proximal protion of the long arm of chromosome 13 [47,XY, + der(13),t(13;22)(q12;q13)mat]. The patient's mother has a balanced translocation between the long arms of chromosomes 13 and 22 [46,XX,t(13;22)(q12;q13)]. The patient's neutrophils showed an elevated number of nuclear projections and his fetal hemoglobin level was undetectable.
Adult↗
18p--syndrome resulting from translocation (13a;18q) in a mildly affected adult male.
The patient was a 27-year-old male with short stature, borderline mental deficiency, strabismus, and a short fourth metacarpal. His karyotype showed deletion of the short arm of a chromosome 18 as the result of de novo fusion centric translocation between chromosomes 13 and 18 (45,XY, --13, --18, +t(13;18) (13qter yields cen yields 18qter).
Adult↗
Chromosome 7 short-arm interstitial deletion (p14).
A 13-year-old girl presented with microcephaly, short and broad neck, low posterior hairline, congenital heart disease, limitation of joint movement, and mild mental retardation. Chromosomal analysis showed interstitial deletion of band p14 of the short arm of chromosome 7. The patient's physical and cytogenetic findings are compared with those of five other patients with 7p- deletions.
Adolescent↗
Normal karyotypes in infants with neural-tube defects.
Explore the source record for details and available documents.
Child↗