1/205. Possible intrachromosomal duplication in a case of trisomy 9p.A 5-year-old boy with multiple minor anomalies and mental retardation was found to have chromosomal condition of 46,XY,inv dup(9p) (pter leads to p13::p21 leads to p24::p13 leads to qter). The clinical features of the propositus fit well with those of trisomy 9p which have been established to be a clinical entity.- - - - - - - - - - ranking = 1keywords = situs (Clic here for more details about this article) |
2/205. Larsen syndrome in two generations of an Italian family.This paper describes a familial case of Larsen syndrome. Typical anomalies were present in the propositus and 2 of his 6 daughters. In addition, all patients had progressive deafness and the 2 daughters had cleft palate. The certain exclusion of any consanguinity between the couple, suggests, in this instance, the dominant mode of transmission of the syndrome.- - - - - - - - - - ranking = 1keywords = situs (Clic here for more details about this article) |
3/205. New syndromic entity of situs inversus totalis.A 22-year-old Bedouin female with MCA/MR has been recently ascertained. She showed profound mental retardation, proportionate short stature, facial dysmorphism, spastic quadreparesis, bilateral taliper equinovarus, brachydactyly, situs inversus totalis, and MRI findings of cerebellar/midbrain migration defects. The described phenotype represents a new syndromic situs inversus with a characteristic Facio-Cerebro-Skeleto-Cardiac phenotype.- - - - - - - - - - ranking = 50.402396920112keywords = situs inversus, inversus, situs (Clic here for more details about this article) |
4/205. Say syndrome: report of a familial case.We describe a new case of Say syndrome. This syndrome is an autosomal dominant condition characterized by cleft palate, short stature of prenatal onset, large protruding ears and microcephaly, delayed bone age, and renal anomalies. The first report was in 1975 by Say et al. in three generations of a family. Three additional reports of isolated cases were published. Our propositus is a 12-month-old boy with the cardinal signs of the syndrome whose mother has only microcephaly. To our knowledge this is the second familial report with evidence of highly variable expressivity. The occurrence of renal anomalies in a son of a normal sister of his mother suggests incomplete penetrance.- - - - - - - - - - ranking = 1keywords = situs (Clic here for more details about this article) |
5/205. Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: value of FISH over high resolution banding.Cryptic unbalanced chromosome rearrangements in the telomeric bands of the chromosomes may constitute a significant cause of unexplained mental retardation with or without congenital anomalies. We report on a boy with a terminal deletion of the long arm of chromosome 13, combined with a partial duplication of the short arm of chromosome 20, owing to a cryptic balanced translocation in his father. The karyotype of the father was 46XY,t(13;20)(q34;p13). The propositus presented with severe mental and growth retardation, microcephaly, facial anomalies including ptosis of the right upper eyelid, a high nasal bridge, small palpebral fissures, and bilateral epicanthus, hypospadias, and scoliosis. A younger brother died at birth and had a low birth weight, hypospadias, and a horseshoe kidney. Repeated chromosome analyses with high resolution banding in the propositus and his parents were apparently normal. chromosome painting eventually disclosed the cryptic translocation in the father with unbalanced karyotype in the propositus. The importance of additional FISH analysis in patients with unexplained mental retardation, physical anomalies, and apparently normal chromosomes is emphasized.- - - - - - - - - - ranking = 3keywords = situs (Clic here for more details about this article) |
6/205. Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14).In a 3-year-old boy with short stature, developmental delay, and dry skin, steroid sulphatase deficiency and a submicroscopic terminal deletion of Xp were found. Except for the short stature, no major clinical signs of X-linked recessive chondrodysplasia punctata could be observed. His mother had lowered steroid sulphatase activity compatible with carriership for X-linked ichthyosis and a submicroscopic translocation (X;14)(p22.31;p11.1). This finding combined with a normal amplification of exons 1, 5, and 10 of the STS gene from propositus' DNA suggested a breakpoint upstream of the STS gene. The submicroscopic maternal translocation had important implications for genetic counseling. This case report illustrates that contiguous gene syndrome related to the Xpter region may have an atypical clinical presentation and the usefulness of combined clinical, biochemical, molecular, and fluorescence in situ hybridization analysis.- - - - - - - - - - ranking = 1keywords = situs (Clic here for more details about this article) |
7/205. Characterization of a small supernumerary ring marker derived from chromosome 2 by forward and reverse chromosome painting.A small ring-shaped supernumerary marker chromosome (SMC) was detected in 50% of metaphase cells in an 18-month-old boy with mental retardation and multiple congenital anomalies. Conventional cytogenetic methods had failed to identify the origin of the marker. When the patient was age 11.5 years, we defined the origin of the SMC by fluorescence in situ hybridization using a battery of centromere-specific dna probes. The marker was positive with the probe for locus D2Z. More detailed characterization was achieved by using chromosome 2 arm-specific and marker-specific DNA libraries, which were constructed by microdissection of the two arms chromosome 2 and SMC with subsequent amplification of the chromosomal material by a degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR). The marker was identified as r(2)(p11.2-->q14.1). The propositus had dolichocephaly, coarse hair, low-set ears, exophthalmos, epicanthal folds, strabismus, depressed nasal bridge, high-arched palate, excess of skin on the neck, tapered fingers with mild clinodactyly, talipes varus on the right, inguinal hernia, hypogenitalism, muscular hypotonia, and mental retardation. This is the first case of SMC derived from chromosome 2 that was characterized by forward and reverse chromosome painting.- - - - - - - - - - ranking = 1keywords = situs (Clic here for more details about this article) |
8/205. New syndrome?: Three sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts.Recently we described a previously apparently undescribed autosomal recessive syndrome in two sib fetuses with situs inversus totalis, cystic dysplastic kidneys and pancreas, bowing of the lower limbs and clavicles, severe intrauterine growth retardation, and oligohydramnios. This syndrome differs from that of Ivemark and related syndromes due to lack of liver involvement. After these two sibs, this consanguineous family had a third child and an early prenatal diagnosis of pancreatic and dysplastic renal cysts was made in the 19.5-week-old fetus. The last case supports the genetic hypothesis.- - - - - - - - - - ranking = 42.001997433427keywords = situs inversus, inversus, situs (Clic here for more details about this article) |
9/205. Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.An unusual combination of syndactylies, macrocephaly, and severe skeletal dysplasia was observed in a newborn infant. A history of digital anomalies in the father and grandfather lead to the diagnosis of dominantly inherited Greig cephalopolysyndactyly syndrome (GCPS, MIM #175700). Having explained the digital findings and macrocephaly, the skeletal changes were thought to fit best congenital spondyloepiphyseal dysplasia (SEDC MIM #183900), a type II collagen disorder. Molecular analysis confirmed the presence of two dominant mutations in the propositus: a GLI3 mutation (E543X), which was present also in the father and grandfather, and a de novo COL2A1 mutation leading to a G973R substitution. Thus, this boy combined the syndactyly-macrocephaly phenotype of Greig cephalosyndactyly syndrome with a severe form of spondyloepiphyseal dysplasia caused by the structural defect in type II collagen. The diagnostic difficulties posed by the combination of two genetic disorders and the contribution of molecular diagnostics are well illustrated by this case.- - - - - - - - - - ranking = 1keywords = situs (Clic here for more details about this article) |
10/205. A case of ring 18 chromosome in a sibship with multiple spontaneous abortions.We report the study of a female infant with physical stigmata suggestive of 18 chromosomes deletion, in whom cytogenetic studies revealed a 446,XX,r(18) complement. She was the last born of a sibship of seven composed otherwise by three spontaneous abortions, two perinatal deaths and one living female. The chromosome studies of the parents were normal. The cytogenetic finding and the phenotype are discussed in relation to the 18 chromosome deletion syndromes. The phenotype of the propositus would indicate that her ring 18 is significantly deficient of long arm segment. The apparent sporadic occurrence of this chromosomal anomaly in this family is discussed.- - - - - - - - - - ranking = 1keywords = situs (Clic here for more details about this article) |
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