1/54. Wolf's syndrome in twins -- translocation in the mother.A case of MZ twins, both affected by Wolf's syndrome, is described. Their mother, of subnormal look and low intellectual level is translocated. The children, born with a weight and size much below the average, show a very special morphotype; a hook-nose, an an abnormal conformation of the back edge of the nostrils (a protrusion in the shape of a horn overhanging the filtrum), hypertelorism, microcephaly. Great asynchronism in the maturation of the bones and a somatoschisis of the body of the cervical vertebrae are noted. Deletion of the short arm chromosome 4 is juxtacentromeric. The study of blood and tissue groups corroborates monozygosity. Dermatoglyphs are little abnormal and identical in the two children. The mother's family is phenotypically normal. At 19 months of age, measuring is still below 4, psychomotor progress is extremely weak, and convulsions are frequent.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
2/54. Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3:1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2).A female fetus with bilateral renal agenesis and fetal ascites was found to have partial trisomy 13 (pter-q12.3) and partial trisomy 16 (p13.2-pter), 47,XX, der(13)t(13;16)(q12.3; p13.2)mat. The chromosomal aberration was due to a 3:1 segregation with tertiary trisomy transmitted from a maternal reciprocal translocation 13;16. Prenatal ultrasound of a 29-year-old, gravida 2, para 0 woman at 22 gestational weeks showed fetal ascites, severe oligohydramnios and non-visualization of fetal urinary bladder and kidneys. The pregnancy was terminated. At delivery, the proband displayed dysmorphic features of hypertelorism, a prominent glabella, epicanthic fold, a stubby nose with a depressed nasal bridge, anteverted nares, thin lips, micrognathia, low-set ears, a short neck and a distended abdomen. Necropsy confirmed bilateral renal agenesis and ascites. A cytogenetic study performed on fibroblasts obtained from the proband's skin revealed an extra supernumerary chromosome. The mother was later found to have a reciprocal translocation. fluorescence in situ hybridization for a submicroscopic deletion in chromosome 22q11 in the proband was negative. The parents had no urological anomalies. Our observation further extends the clinical spectrum associated with proximal trisomy 13q and distal trisomy 16p. We suggest prenatal cytogenetic analysis in fetuses with urological anomalies, including renal agenesis, to uncover underlying genetic disorders.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
3/54. 4p- phenotype in an infant with t(4p-;19p or q )mat translocation.Four family members had an apparently balanced t(4p-;19p or q ) translocation indentified by Giemsa banding. One of these individuals, a male infant, has a 4p- phenotype with seizures, large bilateral cleft palate, abnormal anterior fontanel, abnormally shaped ears, hypertelorism, small penis with third-degree hypospadias, and bilateral simian creases. It is theorized that 4p material containing loci essential for normal development was lost in this infant by a simple deletion or "aneusomy by recombination."- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/54. A case of extra small acrocentric bisatellited chromosome in a non mongoloid child.A mentally retarded child with an extra small bisatellited acrocentric chromosome is described. The patient exhibited rather unspecific clinical signs such as strabismus, marked facial asymmetry, broad and prominent nasal bridge, hypertelorism, Brushfield's spots, malformed ears with atresia of the external auditory canal on the right side. Giemsa banding (R and G methods) did not allow a clear cytogenetic identification of the extra-chromosome. A tentative interpretation of the cytogenetic aberration as a trisomy of the proximal part of the long arm of chromosome 13 is discussed.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
5/54. Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21).Close phenotypic similarity between two cases carrying a rec(3) dup q,inv(3) (p25q21), 12 additional infants from the same inv (3)(p25q21) kindred who lived less than 1 year, and eight cases studied in other medical centers has led us to postulate the existence of a distinct chromosome 3 duplication-deletion syndrome. In the presence of trisomy for (3)q21 leads to qter and monosomy for (3)p25 leads to pter, the facial dysmorphy is unique: a distorted head shape due to irregular cranial sutures, thick low eyebrows, long eyelashes, persistent lanugo, distended veins on the scalp, hypertelorism, oblique palpebral fissures, a very short nose with a broad depressed bridge and anteverted nares, protruding maxilla, thin upper lip, micrognathia, low-set ears, and a short webbed neck. Port-wine stains, congenital glaucoma, cloudy corneas, cleft palate and harelip also occur frequently. Each infant has difficulty sucking and swallowing. Congenital anomalies of the cardiovascular system, of midgut rotation, and of the urogenital system are noted for the infants who died neonatally. Most frequent is a ventricular septal defect, followed by atrial septal defect, patent ductus arteriosus, patent foramen ovale, and coarctation of the aorta. Omphalocele, umbilical hernia, hyperplastic kidneys, polycystic kidneys, double ureter, hydro-ureter, hydronephrosis, and undescended testes often occur. The extremities are short in proportion to the length of the trunk. Clinodactyly, coxa valga, talipes, and spina bifida are frequently observed.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
6/54. Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation.Chromosome anomalies are responsible for a significant proportion of patients with mental retardation, and congenital anomalies. Development of new molecular cytogenetic techniques has provided a powerful tool for detection of patients with subtle chromosome abnormalities. Particularly, investigation of the gene-rich subtelomeric regions has generated interest regarding the implications and prevalence of cryptic chromosomal rearrangements. Here we describe an adult with a submicroscopic deletion of 18pter, detected by subtelomeric FISH probe. The patient is a 42-year-old man with a history of developmental delay, moderate mental retardation, and symptoms of paranoid schizophrenia since adolescence. His physical examination is remarkable for only a few dysmorphic findings typically seen in 18p- syndrome (round face, hypertelorism, down-slanted palpebral fissures, temporal narrowing, small hands and feet). He lacks significant short stature, skin changes, and associated anomalies involving internal organs. All known patients with deletions of the short arm of chromosome 18 have either loss of large parts of 18p or of the entire p-arm, or have complex chromosomal rearrangement involving other chromosomes. To our knowledge, this is the first description of a cryptic subtelomeric deletion of 18p and the first case of such a chromosomal anomaly in a patient with schizophrenia. Small subtelomeric chromosomal deletions would be missed by standard G-banded karyotyping. Therefore, FISH analysis using subtelomeric probes should be considered for diagnostic evaluation of patients with psychiatric symptoms and mental retardation in whom the karyotype is normal.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
7/54. 9q34.3 deletion syndrome in three unrelated children.We described three unrelated children with cryptic 9q34.3 rearrangements and similar clinical manifestations: two with 9q34.3 terminal deletions and the other with an unbalanced translocation involving 9q34.3-qter monosomy and 6p25-pter trisomy. Common features among the three we studied and the other six patients with 9q34.3 deletions in the literature include microcephaly, mental retardation (MR), hypotonic, and epileptic seizures. Their facial characteristics included flat face, arched eyebrows, synophrys, hypertelorism, short nose, anteverted nostrils, carp mouth, protruding tongue, micrognathia, and pointed chin. Other frequent abnormalities were cardiac abnormalities, cryptorchidism or hypospadias, and abnormal toes. These findings are characteristic enough to be a clinically recognizable syndrome.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
8/54. Robinow syndrome in two siblings from consanguineous parents.A Kurdish family had two children affected with Robinow syndrome. The daughter had short stature, macrocephaly, hypertelorism, hepatosplenomegaly, short forearms and marked vertebral anomalies. Her brother had hypertelorism, hypertrophied alveolar ridges, hepatosplenomegaly, short forearms, rib anomaly and ambiguous genitalia. The karyotype of the affected male sibling showed mosaicism for 45X, 46,X,dicY(q11.22), 47,X,dicY(q11.22),dicY(q11.22).- - - - - - - - - - ranking = 2keywords = hypertelorism (Clic here for more details about this article) |
9/54. Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases.Two new patients, mosaic for a small supernumerary ring chromosome 7 are described. There are only seven published reported concerning supernumerary ring chromosome 7 and we reviewed the previously reported cases in an attempt to establish genotype-phenotype correlations, which are particularly important for genetic counselling and clinical genetics. Our first case was a 20 months old girl who was referred for a mild motor developmental delay, an asymmetric facial appearance, a plagiocephaly and a short nose with anteverted nostrils. Our second case was a 9 years old boy who was referred for a IQ at the lower end of the normal range (? 80), obesity, hyperactivity and some dysmorphic features including hypertelorism and down slanting palpebral fissures. In both cases, chromosome analysis after G and R banding and FISH showed a small ring chromosome 7 in respectively 76% and 50% of consecutively scored metaphases. Both ring chromosomes were labelled by FISH using the williams syndrome locus probe (elastin Gene D7S486). Comparison between these two cases and previously published cases allowed to delineate frequent clinical findings. A mild mental retardation was found in the majority of patients. which is an important data for genetic counselling.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
10/54. trisomy 16p in a liveborn infant and review of trisomy 16p.We report on an infant boy with duplication of part of 16p and partial deficiency of 9p: 46,XY, -9, der(9)t(9;16)(p24;p13.1)mat. The child has the typical phenotype of dup(16p) even though the extra piece of 16p is small (16p13.1 pter). Manifestations include severe developmental delay, rounded face, sparse hair, ear anomalies, hypertelorism, cleft soft palate, a thin vermilion border of the upper lip, and left renal dysgenesis. We review 16p duplications.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
| | Next -> |