1/47. Delineation of two distinct 6p deletion syndromes.Deletions of the short arm of chromosome 6 are relatively rare, the main features being developmental delay, craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities occurring in some instances. We present the molecular cytogenetic investigation of six cases with 6p deletions and two cases with unbalanced translocations resulting in monosomy of the distal part of 6p. The breakpoints of the deletions have been determined accurately by using 55 well-mapped probes and fluorescence in situ hybridization (FISH). The cases can be grouped into two distinct categories: interstitial deletions within the 6p22-p24 segment and terminal deletions within the 6p24-pter segment. Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23-p24; and corneal opacities/iris coloboma/Rieger anomaly, hypertelorism and deafness with deletions of 6p25. The two cases with unbalanced translocations presented with a Larsen-like syndrome including some characteristics of the 6p deletion syndrome, which can be explained by the deletion of 6p25. Such investigation of cytogenetic abnormalities of 6p using FISH techniques and a defined set of probes will allow a direct comparison of reported cases and enable more accurate diagnosis as well as prognosis in patients with 6p deletions.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
2/47. trisomy 19 q.Two sibs with trisomy for the long arm of chromosome 19 are reported. The common features included flat facial profile with microcephaly, hypertelorism, ptosis, prominence of the glabella, small nose with anteverted nostrils and a characteristic fish-shaped mouth. In addition congenital heart disease, physical retardation and seizures were seen in both sibs. That tristomy 19q can be suspected clinically is emphasized.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
3/47. leopard syndrome--report of a variant case.This case report presents a patient with leopard syndrome, with multiple lentigines all over the body and face, ocular hypertelorism, delayed secondary sexual characteristics, mild cardiac abnormalities and supernumerary teeth. Clinical relevance of this syndrome lies in its early recognition and precautions to be taken during any invasive dental procedure, which if not performed under antibiotic prophylaxis and premedication, could lead to infective endocarditis. Additionally, a multidisciplinary approach with pediatric and medical consultants is mandatory during the management of such cases.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/47. 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) |
5/47. Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8).We describe two sibs with the unbalanced translocation der(6)t(6;8)(p25.1;q24.23), making them monosomic for 6p25.1-->6pter and trisomic for 8q24.23-->8qter. The siblings both possess Axenfeld-Rieger Anomaly (ARA), hypertelorism, clinodactyly, and cardiac anomalies, but otherwise vary in the phenotypic manifestations of this unbalanced translocation. We compare them to previously described cases and a recently proposed syndrome of ARA, atrial septal defect, and sensorineural deafness.- - - - - - - - - - ranking = 5keywords = hypertelorism (Clic here for more details about this article) |
6/47. Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.Ritscher-Schinzel syndrome, also known as the 3C syndrome, is a rare, autosomal recessive syndrome characterized by craniofacial, cerebellar, and cardiac anomalies. Cardiac manifestations include ventricular septal defect, atrial septal defect, tetralogy of fallot, double outlet right ventricle, hypoplastic left heart, aortic stenosis, pulmonic stenosis and other valvular anomalies. central nervous system anomalies include Dandy-Walker malformation, cerebellar vermis hypoplasia and enlargement of the cisterna magna. craniofacial abnormalities seen are cleft palate, ocular coloboma, prominent occiput, low-set ears, hypertelorism, down-slanting palpebral fissures, depressed nasal bridge and micrognathia. Dandy-Walker malformation, posterior fossa cyst, hydrocephalus and congenital heart defect are common malformations that may occur in isolation or as a part of many syndromes. Accurate genetic diagnosis and counseling require detailed analysis of the external as well as the internal anatomy and knowledge of the relative frequencies of various malformations in syndromes that may have overlapping clinical signs. We have had the opportunity recently to study four cases of the Ritscher-Schinzel syndrome. A review of all reported cases is presented and an attempt made to define the minimum diagnostic criteria for the Ritscher-Schinzel syndrome. Of the nine craniofacial anomalies commonly reported as a part of the Ritscher-Schinzel syndrome, we consider two i.e., cleft palate and ocular coloboma, to be readily and objectively ascertainable. The other seven craniofacial traits, however, are somewhat subjective, require expert interpretation and are sometimes difficult to ascertain in a newborn or stillborn fetus. These are prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge and micrognathia. At least four of these were present in all cases that had a secure diagnosis of the Ritscher-Schinzel syndrome. Thus, the criteria we propose to establish the diagnosis of the Ritscher-Schinzel syndrome in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, cerebellar malformation, and cleft palate or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and micrognathia.- - - - - - - - - - ranking = 3keywords = hypertelorism (Clic here for more details about this article) |
7/47. 18p deletion syndrome with a 45, XY, t (14; 18) (p11;q11.2), -18, karyotype.A dysmorphic male child of 8 months age presented with microphthalmia, micrognathia, hypertelorism, wide anterior fontanelles, large forehead, short neck, prominent ears, macrotestis and delayed developmental milestones. The patient presented with generalised seizures hydrocephalaus and Coarctation of aorta (Pre subclavian). He also had mild hypocalcaemia with normal renal function. Cytogenetic study revealed 18p(-) picture due to translocation between 14 p & 18q. Since the spectrum of clinical expression is similar to that is seen in 18p(-) syndrome it is suggested that not only whole of 18p but part of chromosome no. 18 proximal to 18 q 11.2 may also be involved in this phenotype.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
8/47. PTPN11 mutations in leopard syndrome.leopard syndrome is an autosomal dominant disorder with multiple lentigines, congenital cardiac abnormalities, ocular hypertelorism, and retardation of growth. deafness and genital abnormalities are less frequently found. We report a father and daughter and a third, unrelated patient with leopard syndrome. Recently, missense mutations in the PTPN11 gene located in 12q24 were found to cause noonan syndrome. All three cases of leopard syndrome reported here have a Y279C mutation in the PTPN11 gene. We hypothesise that some PTPN11 mutations are associated with the typical noonan syndrome phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or cafe au lait spots.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
9/47. Further delineation of the Toriello-Carey syndrome: a report of two siblings.Toriello-Carey is a rare multiple malformation/mental retardation syndrome characterized by dysmorphic features, including telecanthus/hypertelorism, short palpebral fissures, a small nose with anteverted nares, malformed ears, and a Pierre Robin sequence. Affected patients also show several other important signs of midline field disruption: agenesis of the corpus callosum, laryngeal anomalies, and congenital heart defects. Hypotonia and developmental delay are present in most reported cases. Autosomal recessive inheritance was proposed, but an X-linked or sex-influenced gene disorder was also suspected. We report on two siblings, a brother and sister, supporting further an autosomal recessive type of inheritance. Both patients had severe clinical presentation with death in early infancy. Besides clinical findings typical for this condition, they showed additional traits, expanding further the phenotypic spectrum. A specific malformation pattern observed in the patients presented and, in the previously reported cases, suggests an early midline developmental field disruption, presumably caused by a developmental regulatory gene mutation.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
10/47. prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction.OBJECTIVES: To present the prenatal diagnosis and perinatal findings of mosaic ring chromosome 22. CASE: amniocentesis was performed at 18 gestational weeks because of an advanced maternal age. cytogenetic analysis of the cultured amniotic fluid cells revealed mosaicism for ring chromosome 22, 45,XX,-22[6]/46,XX,r(22)(p13q13.31)[15]. Abnormal fetal sonographic findings included small for gestational age, a ventricular septal defect, and truncus arteriosus. The pregnancy was terminated. Additional phenotypic findings included hypertelorism, epicanthal folds, and abnormal ears. cytogenetic analysis of the cord blood lymphocytes revealed a complex mosaic karyotype, 45,XX,-22[7]/46,XX,r(22)(p13q13.31)[82]/46,XX,idic r(22)(p13q13.31;p13q13.31)[11]. cytogenetic analysis of the hepatocytes also revealed mosaic r(22) with mosaicism for idic r(22) and monosomy 22. The deletion of distal 22q and the duplication of 22q11.2 on idic r(22), and the distal 22q deletion on r(22) were demonstrated by fluorescent in situ hybridization (FISH) analysis using 22q terminal probes at 22q13 and a digeorge syndrome critical region probe at 22q11.2. The breakpoint on distal 22q13 and the extent of the duplication of 22q on idic r(22) was determined by examining polymorphic markers specific for chromosome 22 using quantitative fluorescent polymerase chain reaction assays. The chromosomal aberration was of maternal origin. CONCLUSION: Molecular and FISH studies allow a better delineation of some prenatally detected aneuploidy syndromes and help elucidate the genetic pathogenesis. Fetuses having mosaic r(22) with a low level mosaicism for r(22) duplication/deletion may present cardiovascular abnormalities and intrauterine growth restriction on prenatal ultrasound.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
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