Isolated absence of the ductus arteriosus is extremely rare condition although the ductus arteriosus may be hypoplastic or aplastic in association with other aortic arch anomalies. Authors described a case of isolated agenesis of the ductus arteriosus documented by postmortem examination of a newborn infant who died of pneumonia following operation for a large omphalocele. The heart showed ventricular septal defect. However, no other cardiovascular anomalies were associated in this case. There were three vessels that were taking off from the aorta consisted of the right brachiocephalic artery, left common carotid-artery and left subclavian artery. The anteriorly located pulmonary artery was divided into the right and left pulmonary arteries. There was no connection of vessel between the pulmonary artery and the aorta.
Abnormalities, Multiple/embryology/pathology ; Ductus Arteriosus/*abnormalities ; Heart Defects, Congenital/embryology/pathology ; Hernia, Umbilical/complications ; Humans ; Infant, Newborn ; Male

We report an autopsy case of a male fetus with Adams-Oliver syndrome. His mother was a healthy, 31-year-old woman and her family and past histories were unremarkable. Therapeutic termination was done at 28() weeks gestational age due to oligohydramnios detected by antenatal ultrasonography. Chromosomal study revealed normal karyotype. On autopsy, characteristic transverse terminal defect of four extremities was found. Both feet were short and broad. All toes were rudimentary with no nails and fingers were irregularly short. On infantogram, all toe-bones were stubby and rudimentary. The middle and terminal phalanges of 2nd, 3rd +ACY- 5th fingers and the terminal phalange of 4th finger on the right hand were absent. The middle and terminal phalanges of 2nd +ACY- 5th fingers and terminal phalange of 3rd finger were defected on the left hand. His abnormalities were consistent with features of Adams-Oliver syndrome, which has not been reported in Korea.
Abnormalities, Multiple/pathology+ACo- ; Abnormalities, Multiple/embryology ; Abortion, Habitual ; Abortion, Therapeutic ; Adult ; Autopsy ; Case Report ; Female ; Fetal Diseases/pathology+ACo- ; Foot Deformities, Congenital/radiography ; Foot Deformities, Congenital/pathology+ACo- ; Foot Deformities, Congenital/embryology ; Genes, Dominant ; Hand Deformities, Congenital/radiography ; Hand Deformities, Congenital/pathology+ACo- ; Hand Deformities, Congenital/embryology ; Human ; Male ; Oligohydramnios ; Pregnancy ; Scalp/embryology ; Scalp/abnormalities+ACo- ; Skin Abnormalities/pathology+ACo- ; Skin Abnormalities/embryology ; Syndrome

We report an autopsy case of a male fetus with Adams-Oliver syndrome. His mother was a healthy, 31-year-old woman and her family and past histories were unremarkable. Therapeutic termination was done at 28() weeks gestational age due to oligohydramnios detected by antenatal ultrasonography. Chromosomal study revealed normal karyotype. On autopsy, characteristic transverse terminal defect of four extremities was found. Both feet were short and broad. All toes were rudimentary with no nails and fingers were irregularly short. On infantogram, all toe-bones were stubby and rudimentary. The middle and terminal phalanges of 2nd, 3rd +ACY- 5th fingers and the terminal phalange of 4th finger on the right hand were absent. The middle and terminal phalanges of 2nd +ACY- 5th fingers and terminal phalange of 3rd finger were defected on the left hand. His abnormalities were consistent with features of Adams-Oliver syndrome, which has not been reported in Korea.
Abnormalities, Multiple/pathology+ACo- ; Abnormalities, Multiple/embryology ; Abortion, Habitual ; Abortion, Therapeutic ; Adult ; Autopsy ; Case Report ; Female ; Fetal Diseases/pathology+ACo- ; Foot Deformities, Congenital/radiography ; Foot Deformities, Congenital/pathology+ACo- ; Foot Deformities, Congenital/embryology ; Genes, Dominant ; Hand Deformities, Congenital/radiography ; Hand Deformities, Congenital/pathology+ACo- ; Hand Deformities, Congenital/embryology ; Human ; Male ; Oligohydramnios ; Pregnancy ; Scalp/embryology ; Scalp/abnormalities+ACo- ; Skin Abnormalities/pathology+ACo- ; Skin Abnormalities/embryology ; Syndrome

The causes of congenital hydrocephalus vary widely and have an important effect in determining the future counseling of affected cases. We analyzed the postmortem findings of 49 autopsies diagnosed as hydrocephalus to find the causes and related conditions. The cases were collected during the last 10 years (1981-1990). The cases consisted of 25 cases associated with various congenital malformations of the central nervous system (CNS), 14 cases of posthemorrhagic hydrocephalus, 4 cases of postinfection hydrocephalus, and 2 cases of hydranencephaly. Four cases were associated with supracerebellar arachnoid cyst (1) and unknown causes (3). Twenty-five cases associated with congenital malformation of the CNS consisted of 10 cases of holotelencephaly, 5 cases of stenosis of the Sylvian aqueduct, 4 cases of agenesis of the corpus callosum, and 3 cases each of Dandy-Walker malformation and Arnold-Chiari malformation. Various malformations of other organs were associated with these cases. Cardiovascular malformations were common, consisting of 11 cases of patent ductus arteriosus (PDA), 7 cases of atrial septal defect (ASD), and 6 cases of patent foramen ovale (PFO). Among the anomalies of the respiratory system, abnormal lobation was commonly associated, as well as hypoplasia of the lung. Gastrointestinal malformations included Meckel's diverticulum, diaphragmatic hernia, mobile intestine, and midline small liver. Cryptorchidism was the most common malformation in the genitourinary system. Holotelencephaly cases showed multiple craniofacial anomalies, as well as other malformations in the central nervous system. Skeletal malformations included polydactyly, simian crease, and flexion deformity. There were no specific constellations of malformations in these different groups of CNS malformations associated with hydrocephalus.
*Abnormalities, Multiple/pathology ; Autopsy ; Central Nervous System/abnormalities ; Cerebral Hemorrhage/complications ; Female ; Fetal Diseases ; Herpes Simplex/complications ; Humans ; Hydrocephalus/complications/embryology/*etiology/pathology ; Infant, Newborn ; Male

We report an unbalanced translocation involving chromosome 2 and 7 due to a balanced reciprocal translocation 2;7 in the father. The female fetus had a partial trisomy of the long arm of chromosome 2 with a partial monosomy of distal 7q. Ultrasound at the first trimester had indicated normal fetal anatomy, including normal intracranial structures. Parental karyotypes showed a paternal balanced translocation: 46,XY,t(2;7)(q37.3;->q34). The unbalanced translocation in the fetus resulted in trisomy for 2q37.3 qter and monosomy for 7q34->qter. Postnatal examination showed that the female abortus had a cleft lip and palate, and mild dysmorphic features. The clinical phenotype was in agreement with previous descriptions and allowed us to propose a fetal phenotype for this chromosomal abnormality.
Abnormalities, Multiple/embryology ; Abnormalities, Multiple/genetics* ; Abortion, Habitual/genetics ; Abortion, Therapeutic ; Adult ; Chromosome Disorders/embryology ; Chromosome Disorders/genetics* ; Chromosomes, Human, Pair 2/ultrastructure* ; Chromosomes, Human, Pair 7/ultrastructure* ; Female ; Fetal Diseases/genetics ; Fetal Diseases/pathology ; Fetus/abnormalities* ; Human ; Male ; Monosomy* ; Phenotype ; Pregnancy ; Translocation (Genetics)* ; Trisomy*

OBJECTIVETo reprogram the 1q21.1 microdeletion pluripotent stem cells in order to establish an ideal model for further studying its pathogenesis.

METHODSHuman amniotic fluid-derived cells induced pluripotent stem cells (hAF-iPSCs) were induced from amniotic fluid cells harboring the 1q21.1 microdeletion by retroviral vectors encoding Oct4, Sox2, c-Myc and Klf4. Characteristics of the 1q21.1 microdeletion hAF-iPSCs were determined, which included in vitro pluripotency, karyotype, microarray analysis, the capacity of differentiation in vivo and in vitro, etc.

RESULTShAF-iPSCs derived from amniotic fluid cells harboring the 1q21.1 microdeletion have maintained self renewal, with expression of pluripotency marker genes detectable at mRNA level. Stem cell surface antigens were tested by immunocytochemistry. The 1q21.1 microdeletion hAF-iPSCs showed a normal karyotype after long-term culturing in vitro, and harbored the same microdeletion as confirmed by microarray analysis. The cells have maintained their differentiation capacity both in vivo and in vitro.

CONCLUSIONThe hAF-iPSCs harboring the 1q21.1 microdeletion have all the characteristics of normal pluripotent stem cells, and can be used for directed differentiation into specific cells, which may provide an ideal model for studying the pathogenesis of 1q21.1 microdeletion in vitro.

Abnormalities, Multiple ; embryology ; genetics ; physiopathology ; Adult ; Amniotic Fluid ; cytology ; Animals ; Cell Differentiation ; Chromosome Deletion ; Chromosomes, Human ; genetics ; Chromosomes, Human, Pair 1 ; genetics ; Female ; Fetal Diseases ; genetics ; physiopathology ; Gene Deletion ; Humans ; Induced Pluripotent Stem Cells ; cytology ; Male ; Megalencephaly ; embryology ; genetics ; physiopathology ; Mice ; Mice, SCID ; Models, Biological ; Pregnancy ; Young Adult