1/3399. Phenotypic variability in the chromosome 9 ring.The syndrome associated to the 9 ring is not commonly observed. The first remark was by Kistenmacher (1970) who examined a male. Later observation of other cases has allowed the syndrome to be described, so that it can be said to be characterized by constant signs, such as microcephaly, psychomotor retardation of varying entity and facial dysmorphism corresponding to that observed in 9 p monosomy. The variability of the phenotype has to be compared with the entity of the telomeric deletion, since the clinical outlook, especially the entity of retardation, could be less serious in case of small deletions.- - - - - - - - - - ranking = 1keywords = chromosome, ring (Clic here for more details about this article) |
2/3399. patients with CHARGE association: a model to study saccular function in the human.The term CHARGE association refers to a combination of congenital malformations, the mnemonic CHARGE designating the most frequently occurring anomalies in the constellation. "C" indicates coloboma of the retina, "H" heart defects, "A" choanal atresia, "R" retarded growth and/or central nervous system anomalies, "G" genital hypoplasia, and "E" ear anomalies and/or deafness. The inner ear anomaly consists of a specific form of labyrinthine dysplasia that includes Mondini dysplasia of the pars inferior (cochlea and saccule) and complete absence of the pars superior (utricle and semicircular canals). We observed the development of a child with CHARGE association up to the age of 10 years. There was complete absence of nystagmic response to bithermal caloric and rotatory pendular stimuli. A nystagmic reaction was elicited by the off-vertical axis rotation test, indicating stimulation of the saccular macula, the sole remaining vestibular sense organ in this dysplasia. This reaffirms that the saccule is a vestibular organ, even though it is located in the pars inferior. In spite of the severe bilateral vestibular deficit and coloboma of the retina, the child was able to walk at the age of 2 years. The delay in the development of walking was not due to central nervous system anomalies, as suggested by the "R" of the acronym CHARGE, but rather, to the severe sensorineural visual and vestibular deficits.- - - - - - - - - - ranking = 0.0023002417800147keywords = ring (Clic here for more details about this article) |
3/3399. Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism.A female fetus with brain malformations, multicystic kidneys, absence of the right thumb, and a posterior cleft of palate was delivered at 32 weeks of gestation. Cytogenetic studies including FISH showed a novel intrachromosomal triplication of the proximal long arm of chromosome 2 (q11.2-q21), resulting in tetrasomy for this segment. The middle repeat was inverted. At least 11 patients with intrachromosomal triplications have been reported, mostly involving chromosome 15q. The mechanism involved in formation of these rearrangements is compatible with U-type exchange events among three chromatids.- - - - - - - - - - ranking = 0.49424939554996keywords = chromosome (Clic here for more details about this article) |
4/3399. Kenny-Caffey syndrome: an Arab variant?We describe 2 unrelated Bedouin girls who met the criteria for the diagnosis of Kenny-Caffey syndrome. The girls had some unusual features--microcephaly and psychomotor retardation--that distinguish the Kenny-Caffey syndrome profile in Arab children from the classical Kenny-Caffey syndrome phenotype characterized by macrocephaly and normal intelligence. The 2 girls did not harbor the 22q11 microdeletion (the hallmark of the DiGeorge cluster of diseases) that we previously reported in another Bedouin family with the Kenny-Caffey syndrome (Sabry et al. J Med Genet 1998: 35(1): 31-36). This indicates considerable genetic heterogeneity for this syndrome. We also review previously reported 44 Arab/Bedouin patients with the same profile of hypoparathyroidism, short stature, seizures, mental retardation and microcephaly. Our results suggest that these patients represent an Arab variant of Kenny-Caffey syndrome with characteristic microcephaly and psychomotor retardation. We suggest that all patients with Kenny-Caffey syndrome should be investigated for the 22q11 microdeletion. Other possible genetic causes for the Kenny-Caffey syndrome or its Arab variant include chromosome 10p abnormalities.- - - - - - - - - - ranking = 0.24712469777498keywords = chromosome (Clic here for more details about this article) |
5/3399. Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature.The prenatal diagnosis of a 1p36 deletion is reported. The pregnancy was ascertained at 24 weeks of gestation because of the discovery of multiple malformations at ultrasound including hypotelorism, moderate cerebral ventricular dilatation and ebstein anomaly with secondary cardiac failure. Following cytogenetic studies and counselling, the pregnancy was terminated and a fetal autopsy performed. The phenotype of this antenatally-diagnosed case is compared with the clinical features of 44 previously reported cases with an identical deletion of the short arm of chromosome 1p36.- - - - - - - - - - ranking = 0.24712469777498keywords = chromosome (Clic here for more details about this article) |
6/3399. Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome.PURPOSE: To report a 10-year-old girl with developmental anomalies of both optic disks, a chorioretinal coloboma, sphenopharyngeal meningoencephalocele, and moyamoya disease. methods: A full ophthalmologic examination, cranial magnetic resonance imaging and magnetic resonance angiography, and cerebral angiography were performed. RESULTS: The patient had a morning glory disk anomaly and microphthalmos of the right eye and optic nerve hypoplasia and retinochoroidal coloboma in the left eye. She had a midfacial cleft and an episode of seizures and a stroke. magnetic resonance imaging showed a sphenopharyngeal meningoencephalocele. magnetic resonance angiography and cerebral angiography demonstrated a pattern consistent with moyamoya disease. CONCLUSIONS: This patient had a distinct syndrome of optic disk, retinochoroidal, and carotid circulation anomalies with midline cranial defects. The recognition and treatment of the vascular abnormalities and cranial defects may prevent complications such as strokes that may occur during or after general anesthesia.- - - - - - - - - - ranking = 0.0023002417800147keywords = ring (Clic here for more details about this article) |
7/3399. Right aortic arch with aberrant left innominate artery: MR imaging findings.A rare case of a 60-year-old man with a right aortic arch and aberrant left innominate artery is presented. This case had an unusual clinical presentation. The dysphagia appeared suddenly in adulthood, whereas vascular rings, when symptomatic, usually manifest early in childhood. To our knowledge, MR imaging findings of this anomaly have never been reported. The diagnosis was made by MR imaging and confirmed by surgery. magnetic resonance imaging can replace angiography in the assessment of the aortic arch anomalies.- - - - - - - - - - ranking = 0.0023002417800147keywords = ring (Clic here for more details about this article) |
8/3399. Radial club hand with absence of the biceps muscle treated by centralisation of the ulna and triceps transfer. Report of two cases.Two children with radial club hand and absence of the biceps muscle were treated by centralisation of the ulna into the carpus and triceps transfer. The two operations were performed only a short time apart so that the period between the procedures could be used to stretch the triceps and to enable the children to adapt to an altered position of the wrist and to mobility of the elbow at one step and following a single period of plaster immobilisation. It is very likely that function is better than it would have been had the condition remained untreated. Before operation the children had only a crude hook function of the hand against the forearm and could not bring the hand to the mouth. Even if function is not much improved, the improvement in appearance is considerable and is by itself sufficient to justify the procedures.- - - - - - - - - - ranking = 0.0023002417800147keywords = ring (Clic here for more details about this article) |
9/3399. Clinical characteristics of charge syndrome.charge syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development including CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss. We experienced three cases of charge syndrome who displayed ocular coloboma, heart defects, retarded growth and development, and external ear anomalies, and we also review the previously reported literature concerning charge syndrome.- - - - - - - - - - ranking = 0.0023002417800147keywords = ring (Clic here for more details about this article) |
10/3399. De novo inverted duplication 9p21pter involving telomeric repeated sequences.We report on clinical and cytogenetic findings in a boy with partial 9p duplication, dup(9)(p21pter). Clinical manifestations included facial and hand anomalies and mental retardation. fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH) were used to characterize further and confirm the conventional banding data. Investigation by FISH using whole chromosome 9 paint probe showed that the additional material was derived from chromosome 9. Using CGH, a region of gain was found in the chromosome segment 9p21pter. YACs and telomeric probes confirmed the duplicated region. Using the all-human telomeric sequences probe, intrachromosomal telomeric signal was noted on the short arm of the abnormal chromosome 9. Mechanism of formation of the duplication, including intrachromosomal telomeric sequences, is discussed.- - - - - - - - - - ranking = 0.98849879109993keywords = chromosome (Clic here for more details about this article) |
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