Search Results - "Gershin, Irina F."

Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4 by Cotter, Philip D., Kaffe, Sara, Li, Lei, Gershin, Irina F., Hirschhorn, Kurt

“…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…”
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Physical Mapping of the Human Connexin 40 (GJA5), Flavin-Containing Monooxygenase 5, and Natriuretic Peptide Receptor A Genes on 1q21 by Gelb, Bruce D., Zhang, Jian, Cotter, Philip D., Gershin, Irina F., Desnick, Robert J.

“…The human connexin 40 gene (Cx40; HGMW-approved symbol GJA5), a gap junction protein, was mapped previously to 1pter–q12 by analysis of somatic cell hybrids…”
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Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth‐retarded male: mos47,XXY/48,XXY, + r(X) by Manea, Susan R., Gershin, Irina F., Babu, Arvind, Willner, Judith P., Desnick, Robert J., Cotter, Philip D.

“…Supernumerary ring X [r(X)] chromosomes are often found in patients with Turner syndrome. The phenotypic effects of the r(X) chromosome are variable, and…”
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Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: mos47,XXY/48,XXY, + r(X) by Manea, Susan R., Gershin, Irina F., Babu, Arvind, Willner, Judith P., Desnick, Robert J., Cotter, Philip D.

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Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19 by Cotter, Philip D., McCurdy, Leslie D., Gershin, Irina F., Babu, Arvind, Willner, Judith P., Desnick, Robert J.

“…A tandem duplication of the distal long arm of chromosome 19 was identified in a 10 week fetus by analysis of chorionic villi. The fetal karyotype from two…”
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Prenatal diagnosis of a familial interchromosomal insertion of Y chromosome heterochromatin by Ashton-Prolla, Patricia, Gershin, Irina F., Babu, Arvind, Neu, Richard L., Zinberg, Randi E., Willner, Judith P., Desnick, Robert J., Cotter, Philip D.

“…An apparently unbalanced karyotype containing an abnormal chromosome 11 was identified in a 16‐week female fetus by analysis of cultured amniocytes…”
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