1/5. Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: a new type of distal arthrogryposis?We report on two brothers, a 22-month-old boy and a 7-month-old boy, with multiple distal arthrogryposis (DA), peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence and karyotypes. The parents were cousins once removed. The combination of the clinical manifestations in the patients and the lack of involvement in their parents are incompatible with any known types of DA, and suggest a new type of DA. The parental consanguinity in the family suggests that the disorder is an autosomal recessive condition, although X-linked inheritance is not ruled out.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/5. prenatal diagnosis of mosaic tetrasomy 10p associated with megacisterna magna, echogenic focus of left ventricle, umbilical cord cysts and distal arthrogryposis.We present the first report of mosaic isochromosome 10p associated with multiple congenital anomalies including megacisterna magna, echogenic focus of the left ventricle, umbilical cord cysts, and distal arthrogryposis. The most obvious anomalies found on prenatal ultrasound were enlarged cisterna magna and lower limb flexion contractures which resembled clubfeet. Analyses of GTG-banded chromosomes of 42 cells harvested from 32 independent tissue culture colonies were examined. Thirty-five cells from 27 colonies had 46 chromosomes and appeared to be 46,XX, female karyotype. Seven cells from independent colonies had 47 chromosomes with abnormal karyotypes. The extra chromosome material was identified as isochromosome 10p without involvement of the heterochromatic region of the long arm [47,XX, i(10p)]. Mosaic tetrasomy 10p was confirmed using fluorescent in situ hybridization (FISH) of a 10p-specific probe to metaphase chromosomes of this patient.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
3/5. Decreased maternal serum alpha-feto protein associated with arthrogryphosis multiplex congenita.Decreased maternal serum alpha-feto protein is known to be associated with fetal chromosomal abnormalities. A case of low maternal alpha-feto protein associated with congenital malformations in a fetus with a normal karyotype is described.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/5. arthrogryposis multiplex congenita, Pena-Shokeir phenotype, with gastroschisis and agenesis of the leg.A young mother had a stillborn infant at 33 weeks' gestation, the pregnancy complicated by polyhydramnios. The parents were unrelated, healthy, and both had a normal karyotype. The infant had multiple malformations such as ankylosis, facial anomalies, and pulmonary hypoplasia. A severe gastroschisis and agenesis of the right leg were also present. The neuropathologic findings were those of marked atrophy of anterior horn motor cells in the spinal cord and neurogenic muscle atrophy. This is a case of Pena-Shokeir syndrome with two additional features: gastroschisis and agenesis of the right leg. This syndrome represents a lethal form of arthrogryposis multiplex congenita, and the essential neuropathologic findings are marked reduction in the number of spinal motor cells and neurogenic muscle atrophy.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
5/5. Chromosomal abnormalities associated with congenital contractures (arthrogryposis).In a study of 350 patients with multiple congenital contractures (arthrogryposis), 80 (23%) patients had mental retardation or were developmentally delayed. Out of that group of 80 patients, 13 (16%) were found to have abnormal karyotypes. Two of the thirteen had a family history of chromosomal abnormalities without congenital contractures, therefore, 11 patients had chromosomal anomalies which appeared to be associated with the congenital contractures. Five of the eleven (45%) had chromosome mosaicism, three of those had tissue mosaicism. Two had abnormal skin fibroblast cell lines and normal peripheral leukocyte chromosome studies and one had a normal bone marrow karyotype with abnormal peripheral leukocyte chromosome studies. Chromosome studies were done in these patients with congenital contractures because of developmental delay and multisystem involvement, or recognition of clinical features typical of a chromosomal syndrome. We recommend first lymphocyte; and if those are normal, then fibroblast studies be done on all patients with multiple joint contractures and developmental delay, particularly if unusual facial features or multisystem abnormalities are present.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |