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Biomedical subjects

B Say

Publications and source records attributed to B Say.

At least 19 recordsLinked to original sources
PubMed1996

Charcot-Marie-Tooth disease type 1A: a family study with microsatellites.

Charcot-Marie-Tooth (CMT) disease (also called Hereditary Motor and Sensory Neuropathy) is an inherited peripheral neuropathy with a prevalence rate of 1 in 2,500. Charcot-Marie-Tooth disease type 1A (CMT1A), the most common autosomal dominant form of the disease, is associated with a duplication of a segment of chromosome 17 (17p11.2). In this report we present a three-generation family with CMT1A where simple sequence repeats (di- or tri-nucleotide repeats, also called microsatellites) were used in conjunction with polymerase chain reaction (PCR) to identify the duplication. The presence of three alleles or the presence of two alleles with a dosage ratio of 1:2 for the markers D17S839 and D17S921 indicates the presence of the duplicated segment in affected family members, whereas two alleles with a ratio of 1:1 indicate absence of the duplication. Several markers outside the duplication region which have two alleles with a dosage ratio of 1:1 were used as controls. Seven CMT1A patients in this family carry the CMT1A duplication. One 12-year-old boy who has not exhibited any clinical symptoms does not have the CMT1A duplication. We believe that this is a simple, rapid, and effective method to identify the CMT1A duplication in most patients suspected of having CMT1A.

Adult↗
PubMed1996

Familial deletion of chromosome 18 (p11.2).

Familial transmission of del (18p) syndrome from a mother to her daughter is rare and has been reported only once before. We report a female patient referred to us at age 18 years because of mental retardation associated with short stature. Similar clinical features are also seen in her mother. Chromosome analysis revealed a 46,XX, del (18) (p11.2) karyotype in both the proposita and her mother. Fluorescence in situ hybridization with whole chromosome paint for chromosome 18 showed no evidence of translocation. Because of the familial transmission of del (18p), this case has wider implications in genetic counseling.

Adolescent↗
PubMed1995

Partial trisomy 13q identified by sequential fluorescence in situ hybridization.

We report on a 19-month-old boy with partial trisomy 13q resulting from a probable balanced translocation involving chromosomes 1 and 13. The infant presented with omphalocele, malrotation, microcephaly with overriding skull bones, micrognathia, apparently low-set ears, rocker-bottom feet, and congenital heart disease, findings suggestive of trisomy 13. Karyotypic studies from peripheral blood lymphocytes documented an unbalanced karyotype 46,XY,-1,+der(1). The mother's chromosomes were normal, and the father was not available. Conventional cytogenetic techniques were unable to identify the extra material on the terminal 1q. Using fluorescence in situ hybridization (FISH) on the GTL-banded metaphases, the extra material on 1q was identified as the terminal long arm of 13, thus resulting in partial trisomy 13 (q32-qter).

Abnormalities, Multiple↗
PubMed1995

CD1+ cells in mothers of stillborn infants with neural tube defects.

In healthy individuals, CD1+ cells are found in thymic- tissue, but not in peripheral blood. The thymus, as a key organ of the neuroendocrine system, frequently shows gross abnormalities in infants with neural tube defects. In order to study the immunologic significance of fetal thymic findings, maternal T-lymphocyte subpopulations were investigated. In 10 mothers of healthy newborns, 5 mothers of stillborn infants who had no gross abnormalities, and 5 mothers of stillborn infants with neural tube defects, CD1+, CD3+, CD4+, and CD8+ cells were studied. Only the mothers of the infants with open neural tube defects showed CD1+ cells in their peripheral blood.

Antigens, CD↗
PubMed1994

Maternal serum free beta hCG screening: results of studies including 480 cases of Down syndrome.

The median maternal serum free beta human chorionic gonadotropin (hCG) multiple of the median (MOM) of 480 Down syndrome cases in the second trimester was 2.64, significantly greater than the reported median MOM of intact hCG (p < 0.0001). In 234 of these cases from retrospective and prospective studies, the effectiveness of maternal serum free beta hCG was evaluated in combination with alpha-fetoprotein (AFP) and maternal age in second-trimester Down syndrome screening. Down syndrome detection in the gestational age range of 14-16 weeks was 82 per cent. In all gestational weeks (14-22), a 77.7 per cent Down syndrome detection rate was achieved. In prospective screening of 44,272 patients under the age of 35 years, 69 per cent of Down syndrome cases were detected (73 per cent in gestational weeks 14-16). The false-positive rate for the prospective study was 3.8 per cent. The use of free beta hCG combined with maternal serum AFP and maternal age-related risk for Down syndrome in a screening population (i.e., women under 35 years) yields an improved detection efficiency over other protocols.

Adult↗
PubMed1993

The Costello syndrome.

In 1971 and again in 1977, Costello reported on two unrelated children with multiple congenital malformations associated with growth and developmental retardation and nasal papillomata (Costello, NZ Med J 74:397, 1971; Costello, Aust Paediatr J 13:114-118, 1977). Subsequently, two similar cases were described (Der Kaloustian et al., Am J Med Genet 41:69-73, 1991; Martin and Jones, Am J Med Genet 41:346-349, 1991). Costello syndrome is now a distinct entity. We describe another patient who additionally had hitherto unreported malformations, such as hydrocephalus, seizures, atrial fibrillation, and flutter with atrial septal defect. Although no nasal lesions were found he had laryngeal papillomata associated with a congenital web. A skin biopsy showed no evidence of lipid or mucopolysaccharide storage disease and muscle biopsy was normal by gross and electron microscopic examination.

Abnormalities, Multiple↗
PubMed1993

Robinow syndrome: with special emphasis on dermatoglyphics and hand malformations (split hand).

Fourteen cases of Robinow syndrome are described with special emphasis on dermatoglyphics and hand malformations (split hands were detected in two, ectrodactyly with nail hypoplasia in one and hypoplastic extra middle finger in another one). Dermatoglyphic studies were performed on ten cases. Increased whorl patterns of the finger tips and a single large palmar hypothenar whorl pattern associated with distally displaced axial triradii were detected. These have not previously been described.

Abnormalities, Multiple↗
PubMed1993

Kabuki make-up syndrome and hearing impairment.

In 1981, Niikawa et al. and Kuroki et al. independently described patients with a new syndrome consisting of mental retardation, postnatal growth deficiency and unusual facial features such as long palpebral fissures with eversion of the lateral one-third of the lower eyelids, arched and laterally sparse eyebrows and large prominent ears among other malformations. The condition has been called Kabuki make-up syndrome because the facial features in affected individuals resemble the make-up of the actors in a Japanese play: Kabuki. After the initial reports on Japanese individuals, the condition has been observed in several other patients of different ethnic origins including a few patients from this country (Kaiser-Kupfer et al., 1986; Pagon et al., 1986). We describe an additional 13-year-old male patient with Kabuki make-up syndrome with possible implication of autosomal dominant inheritance from his mother. Interestingly, our patient also displayed hitherto unreported severe ossicular malformations resulting in significant hearing impairment.

Abnormalities, Multiple↗
PubMed1992

Huntington disease: a detective story.

As recombinant DNA diagnoses of various inherited diseases become a standard medical procedure, the practicing physician will be required to identify families at risk and counsel them (or refer them) appropriately. In many families the risk may not be immediately obvious or a reliable risk figure may appear to be unattainable. In the case presented, the patient had an apparent 50% risk for Huntington disease and all the immediate affected relatives were deceased. This relatively common scenario would generally prevent recombinant DNA diagnostic procedures from arriving at a more accurate risk estimate. Nevertheless, by recombinant DNA analysis, a risk for Huntington disease of less than 1% was obtained. Several key aspects of genetic analysis were required including extensive family histories, identification of informative markers, ordering the markers around the disease gene and appropriate statistical analyses. These discussions illustrate the power of recombinant DNA techniques to detect genetic disorders and demonstrate why they will be of increasing importance to the practicing physician.

Genetic Counseling↗
PubMed1991

Spondylocostal dysplasia and neural tube defects.

Spondylocostal dysplasia (Jarcho-Levin syndrome) comprises multiple malformations of the vertebrae and ribs coupled with a characteristic clinical picture of short neck, scoliosis, short trunk, and deformity of the rib cage. We describe a patient with the syndrome who also had spina bifida and diastematomyelia. We surmise that this association is not coincidental. Additional evidence is needed to support the hypothesis that spondylocostal dysplasia and neural tube defects are aetiologically related.

Dysostoses↗
PubMed1988

Split notochord syndrome with dorsal enteric fistula and sacral agenesis.

Split notochord syndrome of the lumbosacral spine in association with dorsal enteric fistula is a rare phenomenon. To date, only nine human cases have been reported in the English literature. We present another case of this type, with sacral agenesis as an additional and unique finding. Several etiological theories are discussed including the persistence of the neurenteric canal, the occurrence of an ectopic or accessory neurenteric canal, a division or local redundancy of the notochord, an entodermal-ectodermal adhesion, neural tube rupture caused by oversecretion of fluid, and failure or aberrancy of dorsal aortic distribution to the region of the neural folds resulting in prevention of timely neural tube closure.

Humans↗