1/23. 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 = atresia (Clic here for more details about this article) |
2/23. 657del5 mutation in the NBS1 gene is associated with nijmegen breakage syndrome in a Turkish family.We report on a consanguineous Turkish family whose first son died of anal atresia and whose second son presented with severe pre- and post-natal growth retardation as well as striking microcephaly, immunodeficiency, congenital heart disease, chromosomal instability and rhabdomyosarcoma in the anal region. The proband was found to carry the homozygous 657del5 mutation in the NBS1 gene, which is responsible for nijmegen breakage syndrome (NBS) in most of the Slav populations. Our family, the first diagnosed with NBS in the Turkish population, represents one of the most severely affected examples of the syndrome, with profound pre- and post-natal growth retardation associated with structural abnormalities, and expands the clinical spectrum of this rare disorder.- - - - - - - - - - ranking = 65.616156906121keywords = anal atresia, atresia (Clic here for more details about this article) |
3/23. Another patient with chromosome 18 deletion syndrome and juvenile rheumatoid arthritis.Previously, 4 children with deletion of the long arm of chromosome 18 and chronic arthritis were reported. We present an 8-year-old girl with arthritis, atrial septal defect, external auditory canal atresia, and developmental delay. She is the fifth child reported with 18q- syndrome and juvenile rheumatoid arthritis. Evidence is mounting that genetic loci on chromosome 18 may play a role in the expression of complex autoimmune diseases. Idiopathic arthritis should be considered as a potential additional feature in 18q- syndrome.- - - - - - - - - - ranking = 65.616156906121keywords = anal atresia, atresia (Clic here for more details about this article) |
4/23. Emerging phenotype of duplication (7p): a report of three cases and review of the literature.Here we report on three patients with dup (7p) and review the previously published 17 cases. Characteristic manifestations include severe/profound psychomotor retardation, dolichocephaly or microbrachycephaly, gaping fontanels and wide sagittal and metopic sutures, hypertelorism, large apparently low-set ears, micrognathia, choanal atresia/stenosis, hyperextensible joints subject to dislocation, joint contractures, and a high rate of cardiac septal defects. Our analysis suggests that dup(7p) is associated with a recognizable characteristic phenotype.- - - - - - - - - - ranking = 65.616156906121keywords = anal atresia, atresia (Clic here for more details about this article) |
5/23. The popliteal pterygium syndrome: distinct phenotypic variation in two families.Two families with two and four members, respectively, affected with the autosomal dominantly inherited popliteal pterygium syndrome (PPS), are reported. In both, only the proposita revealed the full pattern of the PPS including lip pits, clefts, gingival synechiae, popliteal pterygia, syndactyly and genital hypoplasia. One patient in addition had bilateral meatal atresia, a finding hitherto unreported in patients with this syndrome. In both families, one parent and in one, additional members were mildly affected, and both families include members with lip pits as the only manifestation of the PPS. This syndrome has to be considered in patients manifesting only lip pits with or without clefts.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
6/23. tetrasomy for the short arm of chromosome 12 with accessory isochromosome ( i(12p] and a marked LDH-B gene dosage effect.A fetus with tetrasomy for the short arm of chromosome 12 due to a de novo accessory isochromosome i(12p) is described. Involvement of the 12p in this chromosome aberration was suggested by banding analysis and substantiated by detection of a marked increase of LDH-B in the fetal fibroblasts. The syndrome shown by this fetus includes many of the minor anomalies described for live-born patients with partial trisomy 12p, and in addition malformations including brachymelia, anal atresia and double kidneys.- - - - - - - - - - ranking = 65.616156906121keywords = anal atresia, atresia (Clic here for more details about this article) |
7/23. Chromosome 7 short arm deletion, 7p21pter. A case report of a de novo deletion in the short arm of chromosome 7 is presented (46,XX,del(7)(p21 pter)). The five-month-old girl's major symptoms are: trigonocephalus with craniosynostosis, median bony forehead bulge, high palate, atrial septal defect, anal atresia and perineal fistula, thumb insertion far to ulnar-proximal, and a slightly retarded psychomotor development. The other cases with monosomy 7p described in the literature are reviewed.- - - - - - - - - - ranking = 65.616156906121keywords = anal atresia, atresia (Clic here for more details about this article) |
8/23. A case of partial monosomy 21q22.2 associated with Rieger's syndrome.A deleted chromosome 21 is reported in a mentally retarded girl with prominent occiput, high nasal bridge, downward slanting eyes, enophthalmus, atresia of the right lacrimal duct, displaced anal opening, and supernumerary ribs. Cytogenetic investigation of cultured lymphocytes and skin fibroblasts revealed a deletion of the long arm of chromosome 21 at sub-band q22.2 with satellites on both arms. Normal SOD-1 activity confirmed the breakpoint to be distal to band q22.1.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
9/23. The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.Eleven patients with the so-called Cat eye syndrome are reported including a more detailed description of the original cases reported by Schmid and Fraccaro. All cases had, in addition to a normal karyotype, a small extra G-like chromosome which appeared to be an isochromosome for the juxtacentromeric region (pter to q11) of an acrocentric chromosome. None were mosaics. Clinical findings and further cytogenetic studies in a few cases suggest that these markers probably derive from a No. 22 chromosome. Characteristic features of the Cat eye syndrome in these 11 patients and those reviewed from the literature are: ocular coloboma which may involve the iris, choroid and/or optic nerve, preauricular skin tags and/or pits which are probably the most consistent feature, congenital heart defect, anal atresia with a fistula, renal malformations such as unilateral absence, unilateral or bilateral hypoplasia, and cystic dysplasia, and antimongoloid position of eyes. intelligence is usually low-normal, although moderate retardation is also seen. There is great variability in the clinical findings ranging from near normal to lethal malformations. Less frequent, but also characteristic findings are: microphthalmia, microtia with atresia of the external auditory canal, intrahepatic or extrahepatic biliary atresia and malrotation of the gut. Direct transmission of the marker from one generation to the other was observed in both sexes. In those families, there was considerable variability in the clinical findings between affected family members. These cases show that there is a bias of ascertainment for patients who have the more striking malformations, especially those with ocular coloboma and anal atresia, a combination which appears to be present in only a minority of cases. Many mildly affected patients probably remain undetected. It is proposed that the term Cat eye syndrome should be applied only to cases with trisomy or tetrasomy of not more than 22pter to q11 and without additional duplication or deletion of another autosomal segment.- - - - - - - - - - ranking = 133.23231381224keywords = anal atresia, atresia (Clic here for more details about this article) |
10/23. Anal atresia and abdominal wall defect as unusual symptoms in EEC syndrome.In this report we document the concurrence of a large omphalocoele and anal atresia in a female newborn with EEC syndrome (ectodermal dysplasia-Ectrodactyly-cleft palate). Up to now, the association anal atresia-EEC syndrome has been noted in 4 other unpublished patients indicating that anal atresia may constitute another true manifestation of this autosomal dominant syndrome with variable expression.- - - - - - - - - - ranking = 200.84847071836keywords = anal atresia, atresia (Clic here for more details about this article) |
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