Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Sara Kaffe"'
Publikováno v:
Clinical Genetics. 12:323-328
The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46,XX,del(11)(q23). The main clinical manifestations included: ocular colobomata, absent philtrum, severe con
Publikováno v:
American Journal of Medical Genetics. 102:76-80
We report on a 4½-year-old girl, who presented with multiple minor anomalies consistent with trisomy for 4p. GTG-banding identified a de novo terminal inversion duplication of distal 4p, dup(4)(p16.3p15.3). Fluorescence in situ hybridization (FISH)
Publikováno v:
Genetics in Medicine. 1:4-12
Purpose: Comparative genomic hybridization (CGH) is a powerful DNA-based cytogenetic technique that allows the entire genome to be scanned for chromosomal imbalances without requiring the sample material to be mitotically active. During the past 2 ye
Autor:
Sara Kaffe, Theresa W. Depinet, Daniel L. Van Dyke, Beth A. Sullivan, Gail H. Vance, Arthur B. Zinn, Gurbax S. Sekhon, Joleen L. Zackowski, William C. Earnshaw, Richard Stallard, Stuart Schwartz, Huntington F. Willard
Publikováno v:
Human Molecular Genetics. 6:1195-1204
Recent studies have implicated alpha-satellite DNA as an integral part of the centromere, important for the normal segregation of human chromosomes. To explore the relationship between the normal functioning centromere and alpha-satellite DNA, we hav
Autor:
Kurt Hirschhorn, Leslie D. McCurdy, Judith P. Willner, Meenakshi Jhaveri, Sara Kaffe, Philip D. Cotter
Publikováno v:
American Journal of Medical Genetics. 70:74-79
Uniparental disomy (UPD) for several chromosomes has been associated with disease phenotypes. Maternal UPD for chromosome 14 has been described and has a characteristic abnormal phenotype. Paternal UPD14 is rare and only three previous cases have bee
Autor:
M.D. Sara Kaffe, Lillian Y. F. Hsu
Publikováno v:
American Journal of Medical Genetics. 42:801-806
We have compared the cytogenetic abnormalities diagnosed prenatally in 1,098 patients referred for amniocentesis because of low maternal serum α-fetoprotein (MSAFP) to those of 445 patients whose indication was elevated MSAFP and those of 361 patien
Autor:
V. Reid Sutton, Lisa G. Shaffer, Jin-Chen C. Wang, Charles J. Epstein, Brendan Lee, Terry Bertin, Shoji Yano, Angela J. Villar, Sara Kaffe, William H. McAlister
Publikováno v:
Human genetics. 113(5)
Human paternal uniparental disomy for chromosome 14 (upd(14)pat) presents with skeletal abnormalities, joint contractures, dysmorphic facial features and developmental delay/mental retardation. Distal human chromosome 14 (HSA14) is homologous to dist
Publikováno v:
American journal of obstetrics and gynecology. 173(3 Pt 1)
Autor:
Ernest Lieber, Lawrence R. Shapiro, Peter Benn, Karen David, Edmund C. Jenkins, Edward Schutta, Dorothy Warburton, Lita Alonso, Kurt Hirschhorn, Sara Kaffe, Alan Shanske, Lillian Y. F. Hsu
Publikováno v:
Prenatal diagnosis. 12(7)
Currently, accepted protocol which has been developed at the Prenatal Diagnosis Laboratory of New York City (PDL) requires that when a chromosome abnormality is found in one or more cells in one flask, another 20-40 cells must be examined from one or
Publikováno v:
Prenatal diagnosis. 11(1)
One hundred and three cases with prenatal diagnosis of trisomy 20 mosaicism through amniocentesis were reviewed. Approximately 90 per cent (90/101) of the cases were associated with grossly normal phenotype. It is likely that, in the majority of case