Biomedical subjects

K Anyane-Yeboa

Publications and source records attributed to K Anyane-Yeboa.

27 records · Page 2Linked to original sources

PubMed1987

Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases.

Four new cases are reported in which mosaicism for a supernumerary chromosome interpreted as an isochromosome for 12p [i(12p)] is present. In 2 cases seen in early childhood the mosaicism was present at a low level in peripheral blood and was documented in one case to be present with a higher frequency in fibroblast cultures from skin. These cases have clinical features compatible with those in previously reported cases of the Teschler-Nicola/Killian syndrome, many of whom have now been found to be mosaic for a similar i(12p) chromosome in fibroblast cultures. One case was diagnosed prenatally from amniotic fluid culture. The fourth case was a neonatal death, in which fibroblast cultures were established from muscle and increased activity of LDH-B was demonstrated, supporting the theory that the origin of the additional chromosome was from 12p. Loss of the cell line with the supernumerary chromosome occurs after long-term fibroblast culture. Previously unpublished studies showing increased LDH-B activity in case 1 of Pallister-Mosaic syndrome originally reported in 1977 are also reported. It is of interest that our 2 cases which did not survive birth and one previously published case diagnosed prenatally had diaphragmatic herniae.

Abnormalities, Multiple↗

PubMed1987

Herrmann-Opitz syndrome: report of an affected fetus.

In 1969, Herrmann and Opitz described a syndrome of acrocephaly, oligosyndactyly, hypertelorism, and mental retardation. We report on a second case, a fetus with cleft palate, urethral astresia, oligohydramnios, and intrauterine death.

Abnormalities, Multiple↗

PubMed1987

Prenatal diagnosis of sickle hemoglobinopathies: the experience of the Columbia University Comprehensive Center for Sickle Cell Disease.

We report here an evaluation of 55 pregnancies at risk for a sickle hemoglobinopathy prenatally diagnosed by restriction-endonuclease analysis, with the endonucleases MstII and HpaI, of amniocyte DNA. The diagnosis was completed in all cases. Eleven fetuses were predicted to be affected, of which six were terminated. Forty-one of the 55 cases were confirmed. One false-negative was reported in a case predicted to be hemoglobin AS but that was determined to be hemoglobin SS at birth. We estimate that the 55 cases represent only 5% of the pregnancies at risk for a sickle hemoglobinopathy in the New York metropolitan area during the study period. We conclude that the prenatal diagnosis of sickle hemoglobinopathies by molecular methods is reliable. However, the efficiency of utilization and effectiveness of prenatal testing is dependent on the early prospective identification of couples at risk and on the education of communities concerning the significant morbidity of the sickle hemoglobinopathies and the reproductive choices now available to them.

Anemia, Sickle Cell↗

PubMed1986

Newborn screening for hemoglobinopathies: the benefit beyond the target.

As a result of New York State's Newborn Screening Program 4,565 neonates with trait hemoglobinopathies were identified and 3,200 families were notified of the results of testing their infants in New York City in 1982. Of the 1,531 families (2,190 parents) tested and counseled, 22 parents were diagnosed with sickle cell disease and 39 couples were found to be at-risk for having a child with sickle cell disease. Amniocentesis was performed in 14 of the 28 at-risk pregnant women and three of the four affected pregnancies were terminated. MCH-331001-01 to 04

Anemia, Sickle Cell↗

PubMed1985

Tetraphocomelia in the syndrome of thrombocytopenia with absent radii (TAR syndrome).

We report on an infant with the syndrome of Thrombocytopenia with Absent Radii (TAR) with severe lower-limb involvement. Amegakaryocytic thrombocytopenia was detected at 6 days when the platelet count was 11,000/microL. The platelet count increased steadily to 100,000/microL at 3 years. The patient required bilateral above-knee amputations for femorotibial synostoses. We recommend postponement of all elective operations until platelet counts are normal.

Abnormalities, Multiple↗

PubMed1984

Dominant inheritance of bifid nose.

To our knowledge, median cleft of nose without apparent hypertelorism (bifid nose) has been reported only twice [Esser, 1939; Boo-chai, 1965]. We report five individuals in 3 generations of a family who had a bifid nose without apparent hypertelorism or mental retardation. In this family bifid nose was most likely an autosomal dominant trait.

Abnormalities, Multiple↗

PubMed1983

Cleft lip and palate, corneal opacities and profound psychomotor retardation. A newly recognized genetic syndrome?

Clinical histories and physical features of two sisters affected with a previously unreported syndrome are presented with illustrations. The manifestations were profound postnatal growth and psychomotor retardation, hydrocephaly, cleft lip and palate, corneal opacities, central nervous system impairment, and genitourinary anomalies. Four other siblings, two males and two females and the parents of the affected were examined and found to be normal. Infectious, metabolic, and chromosomal etiologies were excluded by appropriate studies. The most likely pattern of inheritance is autosomal recessive.

Abnormalities, Multiple↗

PubMed1980

Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome.

A new case of the Baller-Gerold syndrome is described in a 6 1/2-year-old, black male who presented at birth with bilateral synostoses of the coronal and lambdoidal sutures, bilateral radial aplasia, vertebral anomalies and genito-urinary malformations. The parents and siblings were unaffected, and there was no history of consanguinity. A review of the history and physical findings in our patient and in the four other patients previously reported in the literature is provided, with a discussion on pathogenesis, prognosis and the possible autosomal recessive mode of inheritance of the syndrome.

Abnormalities, Multiple↗

PubMedDate not supplied

Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes.

The following guidelines were adopted by an Ad Hoc Committee convened at the Fourth International Workshop on the Fragile X Syndrome and X-Linked Mental Retardation to establish minimum cytogenetic standards for the preparation and analysis of the fragile X chromosome. The intention of the committee was to develop and provide practical standards for the routine cytogenetic detection of the fragile X. The guidelines describe reasonable criteria for effective tissue culture methods for eliciting the Xq27.3 fragile site in vitro and for the analysis of such chromosome preparations.

Cells, Cultured↗