ABSTRACT
A partial duplication (1)(p21p31), resulting from a maternal direct insertion (13,1) (q22p21p31), was found in a 30-year-old woman with mental retardation, cleft palate, and multiple minor anomalies. Two other affected and deceased relatives were presumed to have the same chromosome imbalance. Duplication 1p cases are reviewed.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations/genetics , Chromosomes, Human, Pair 1/ultrastructure , Intellectual Disability/genetics , Adult , Chromosome Disorders , Chromosomes, Human, Pair 1/genetics , Cleft Palate/genetics , Dwarfism/genetics , Female , Humans , Male , PedigreeABSTRACT
Larsen syndrome is characterized by multiple congenital joint dislocations and flattened facies. Some cases have been familial, with both autosomal dominant and recessive patterns of inheritance. Reports of a form of Larsen syndrome, lethal in the neonatal period, are reviewed. We present a family in which recurrence of the syndrome was diagnosed prenatally, but a lethal outcome again resulted despite preparation for anticipated perinatal complications. Because of the wide clinical variation and the lack of a known metabolic defect, delineation between the various forms of Larsen syndrome is difficult. While the lethal variant appears to be a combination of the Larsen phenotype and pulmonary hypoplasia, other features noted in the lethal cases, such as abnormal palmar creases and laryngotracheomalacia, are also seen in patients with Larsen syndrome who survive.
Subject(s)
Facial Bones/abnormalities , Joint Dislocations/diagnosis , Prenatal Diagnosis , Facial Bones/diagnostic imaging , Female , Humans , Infant Mortality , Infant, Newborn , Joint Dislocations/diagnostic imaging , Male , Pedigree , Pregnancy , Radiography , Syndrome , Ultrasonography , alpha-Fetoproteins/analysisABSTRACT
In order to evaluate the possible effects of pregnancy-associated sex steroids on gastrointestinal function, we determined gastrointestinal transit times and sex steroid levels in 15 women during the third trimester of their pregnancies and again 4--6 weeks following delivery when gastrointestinal function had symptomatically returned to normal. Gastrointestinal transit time from ingestion of a liquid lactulose meal to its delivery to the cecum was determined by monitoring breath hydrogen concentrations at 10-min intervals. Gastrointestinal transit times were significantly prolonged in the third trimester of pregnancy, when progesterone and estradiol levels were increased, compared to the postpartum period. This study supports previous findings which suggest that increasing levels of progesterone and estradiol affect gastrointestinal function and therefore may contribute to gastrointestinal symptoms that often occur in pregnant women.
Subject(s)
Gastrointestinal Motility , Pregnancy , Adult , Estradiol/blood , Female , Humans , Progesterone/bloodABSTRACT
Gastrointestinal transit time as well as serum estradiol and progesterone levels were measured in 15 normally menstruating women twice during their menstrual cycle, once in the follicular phase (days 8-10) when progesterone levels are low and once in the luteal phase (days 18-20) when progesterone levels are increased. Each subject had a progesterone rise during the luteal phase and onset of menses at the expected time documenting ovulatory cycles. Gastrointestinal transit time from ingestion of lactulose to the delivery of the disaccharide to the cecum was determined by monitoring breath hydrogen levels at 10-min intervals. Gastrointestinal transit time was significantly (p less than 0.01) prolonged in the luteal phase when progesterone levels were increased compared with the follicular phase. This study demonstrates that the menstrual cycle plays an important role in determining the gastrointestinal transit time in normally menstruating women.
