The Experts below are selected from a list of 1089 Experts worldwide ranked by ideXlab platform
Alvin A. Miller - One of the best experts on this subject based on the ideXlab platform.
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Features of trisomy 18 and 18p- syndromes in an infant with 45,XY,i(18q).
Clinical genetics, 2008Co-Authors: Harold N. Bass, Robert S. Sparkes, Alvin A. MillerAbstract:An isochromosome for the long arm of chromosome number 18 - 46,XY,i(18q) - was found in an infant who had features of both trisomy 18 and 18p- syndromes. Findings compatible with trisomy 18 included postmature delivery, prominent occiput, severe congenital heart disease, overlapping fingers, and rocker-bottom feet. Those of 18p- syndrome, which frequently resembles Turner syndrome, were downward obliquity to the palpebral fissures, short, Webbed Neck, low posterior hairline, and widely-spaced nipples. The infant died of heart failure at 3.5 months of age. Parental karyotypes were normal.
Harold N. Bass - One of the best experts on this subject based on the ideXlab platform.
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Features of trisomy 18 and 18p- syndromes in an infant with 45,XY,i(18q).
Clinical genetics, 2008Co-Authors: Harold N. Bass, Robert S. Sparkes, Alvin A. MillerAbstract:An isochromosome for the long arm of chromosome number 18 - 46,XY,i(18q) - was found in an infant who had features of both trisomy 18 and 18p- syndromes. Findings compatible with trisomy 18 included postmature delivery, prominent occiput, severe congenital heart disease, overlapping fingers, and rocker-bottom feet. Those of 18p- syndrome, which frequently resembles Turner syndrome, were downward obliquity to the palpebral fissures, short, Webbed Neck, low posterior hairline, and widely-spaced nipples. The infant died of heart failure at 3.5 months of age. Parental karyotypes were normal.
Hermine M. Pashayan - One of the best experts on this subject based on the ideXlab platform.
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The Neck in the XO and XX/XO mosaic Turner's syndrome
Clinical genetics, 2008Co-Authors: Annette Felix, Vlastimil Capek, Hermine M. PashayanAbstract:An attempt to document both the clinical appearance of the Neck and the roentgenographic findings of the cervical vertebrae in 15 cytogenetically diagnosed cases of the Turner syndrome rcvealed the following findings: 11 had Webbed Necks, 13 patients had short Necks, and of those, 10 had a short and Webbed Neck. Fourteen patients had a low hairline, of those, three had a short Neck and a low hairline. Ten patients had a Webbed and a short Neck with a low hairline. Twelve patients had hypoplastic cervical vertebrae, of whom eight showed hypoplasia of all the cervical vertebrae and four showed hypoplasia of one or more cervical vertebrae.
Robert S. Sparkes - One of the best experts on this subject based on the ideXlab platform.
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Features of trisomy 18 and 18p- syndromes in an infant with 45,XY,i(18q).
Clinical genetics, 2008Co-Authors: Harold N. Bass, Robert S. Sparkes, Alvin A. MillerAbstract:An isochromosome for the long arm of chromosome number 18 - 46,XY,i(18q) - was found in an infant who had features of both trisomy 18 and 18p- syndromes. Findings compatible with trisomy 18 included postmature delivery, prominent occiput, severe congenital heart disease, overlapping fingers, and rocker-bottom feet. Those of 18p- syndrome, which frequently resembles Turner syndrome, were downward obliquity to the palpebral fissures, short, Webbed Neck, low posterior hairline, and widely-spaced nipples. The infant died of heart failure at 3.5 months of age. Parental karyotypes were normal.
John A. Crolla - One of the best experts on this subject based on the ideXlab platform.
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Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23).
Journal of medical genetics, 1996Co-Authors: Annette E. Cockwell, R. S. James, Isabella Moore, E Hatchwell, John A. CrollaAbstract:We report a reciprocal translocation t(8;18)(p21.3;p11.23) in which both unbalanced products of adjacent 1 segregation were observed within a family. The proband was originally referred because of short stature and a Webbed Neck, but further investigations showed that she had mental retardation and a congenital heart defect, and had inherited an unbalanced form of the maternal translocation, 46, XX,der(8)t(8;18)mat. The proband's sister spontaneously aborted an 11 week fetus with multiple major system malformations, which was found to have a 46,XY, der(18)t(8;18)mat karyotype. The phenotypic findings of the affected subjects are discussed.
