ABSTRACT
We report a case of mosaicism for three cell lines: 45,X, 46,XX, and 47,XX, + 12, diagnosed prenatally by amniocentesis done for advanced maternal age. Cord blood from the baby showed mosaicism for 45,X and 46,XX; cultures derived from multiple placental sites, villi, cord, membrane, and skin had varying proportions of all three cell lines. The patient at 18 months of age has mild physical dysmorphisms, hypotonia, delay in gross motor development, and age-appropriate cognitive development. The literature reveals variable outcomes for individuals with either mosaic trisomy 12 or mosaic Turner syndrome. Parental origin of the chromosome involved in a proposed corrected trisomy and/or the percentage of cell types in affected organs might account for the variability in outcomes seen.
Subject(s)
Amniocentesis , Chromosomes, Human, Pair 12 , Monosomy , Mosaicism , Trisomy , Adult , Cell Line , Developmental Disabilities/genetics , Female , Fetal Blood , Heart Septal Defects, Atrial/genetics , Humans , Infant , Karyotyping , Maternal Age , Pregnancy , Pregnancy, High-Risk , Turner Syndrome/geneticsABSTRACT
Saliva was collected from six healthy young men at hourly intervals at sea level and after 1-2, 8-9 and 15-16 days at 4450 m on Mount Kenya for measurement of aldosterone (SA) and glucocorticoid (SGC, cortisol + cortisone) concentrations. Blood samples were collected simultaneously with some of the saliva samples and analysis of these showed that plasma and saliva concentrations of aldosterone and glucocorticoids were highly correlated (r = 0.91 and 0.75 respectively; p less than 0.01 for both hormones). Mean SA for the group was reduced to approximately 50% of the sea-level value (p less than 0.05) by the time the first saliva samples were collected at altitude, and remained at this depressed level throughout the 2-week period on Mount Kenya, although there was considerable inter-subject variation. SGC concentration also tended to be lower on Mount Kenya than at sea level. Though SA was lower throughout the day at altitude compared to sea level, the principal difference in the temporal pattern of SA was the reduction or complete absence of the marked rise in SA that normally occurs in the first few hours after rising. SA and SGC responses to exercise, which consisted of stepping on and off and 0.4-m high stool 60 times/min for 25 min, were assessed at sea level and after various periods at 4450 m.(ABSTRACT TRUNCATED AT 250 WORDS)
Subject(s)
Aldosterone/analysis , Altitude , Cortisone/analysis , Hydrocortisone/analysis , Saliva/analysis , Adult , Aldosterone/blood , Atmospheric Pressure , Cortisone/blood , Humans , Hydrocortisone/blood , Male , Physical Exertion , Time FactorsABSTRACT
Siblings with multiple congenital anomalies secondary to familial partial trisomy of chromosome number 13 are described. In addition to other findings, the younger child exhibited a cleft of the soft palate. The mechanism of transmission of the chromosomal abnormalities, the relationship of the physical abnormalities and the chromosome findings, and the significance of these findings in the consideration of recurrence risks in future pregnancies are discussed.
Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, 13-15 , Cleft Palate/genetics , Trisomy , Child , Child, Preschool , Chromosomes, Human, 6-12 and X , Female , Humans , Infant , Karyotyping , Translocation, GeneticSubject(s)
Disaccharidases/deficiency , Mannosidases/deficiency , Adolescent , Adult , Chromatography, DEAE-Cellulose , Electrophoresis, Starch Gel , Face , Female , Fibroblasts/enzymology , Hearing Disorders/etiology , Hearing Disorders/genetics , Humans , Intellectual Disability/etiology , Intellectual Disability/genetics , Isoenzymes/deficiency , Isoenzymes/metabolism , Male , Mannosidases/metabolismSubject(s)
Cutis Laxa/genetics , Ichthyosis/genetics , Cutis Laxa/pathology , Female , Humans , Ichthyosis/pathology , Infant, Newborn , Male , Skin/pathologyABSTRACT
In an effort to improve the precision in prenatal monitoring for metachromatic leukodystrophy, levels of cerebroside sulfatase were determined in fibroblasts and amniotic fluid cells. Cells from MLD patients demonstrated no significant sulfatide hydrolysis, whereas cultures from heterozygous subjects hydrolyzed diminished but definite amounts of sulfatide. Cells from a fetus with low arylsulfatase A activity were able to cleave considerable amounts of sulfatide; enzyme assays performed postnatally suggest that the infant is heterozygous for MLD. This report documents the value of cerebroside sulfatase assays in the in utero monitoring for MLD.
Subject(s)
Amniotic Fluid/cytology , Arylsulfatases/metabolism , Skin/enzymology , Sulfatases/metabolism , Cells, Cultured , Cerebrosides , Female , Fibroblasts/enzymology , Heterozygote , Homozygote , Humans , Hydrolysis , Leukodystrophy, Metachromatic/enzymology , Leukodystrophy, Metachromatic/genetics , Pregnancy , SulfatesABSTRACT
The accumulation of neutral amino acids was studied in cultivated human skin fibroblasts. Transport was blocked by sulfhydryl binding agents, but proceeded without inhibition in the presence of metabolic blocking agents. Both sodium dependent and sodium independent compononets of neutral amino acid accumulation were found. The sodium dependent component preferentially transports short chain amino acids, while the sodium independent system transports long chain amino acids. These components operate simultaneously and with overlap of substrate specificity. Both may function as parts of a single neutral amino acid transport system.
