Search Results - "Kleyman, S M"

Marker chromosomes in fetal loss by Kumar, C, Kleyman, S M, Samonte, R V, Verma, R S

“…The clinical significance of marker chromosomes has remained obscure especially when diagnosed prenatally. Some carriers have terminated their pregnancies…”
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Characterisation of a satellited non-fluorescent Y chromosome (Y[nfqs]) by FISH by Verma, R S, Gogineni, S K, Kleyman, S M, Conte, R A

“…A fetus was prenatally diagnosed as having a Y(nfqs) chromosome which was inherited from the father. With the QFQ technique, the Yqh was observed to be…”
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Variant euchromatic band within 16q12.1 by Verma, Ram S., Kleyman, Svetlana M., Conte, Robert A.

“…The enlarged short arm of chromosome 16 resulting in an additional euchromatic band has been regarded as a variant. We present an unreported case with an…”
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Centromeric alphoid DNA heteromorphisms of chromosome 21 revealed by FISH-technique by Verma, Ram S., Batish, Sat Dev, Gogineni, Swarna K., Kleyman, Svetlana M., Stetka, Daniel G.

“…The centromeric heterochromatin of chromosome 21 has been evaluated by the fluorescence in situ hybridization (FISH) technique. It was found that the alphoid…”
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Delineation of a ring chromosome 16 by the FISH‐technique: a case report with review by Conte, Robert A., Kleyman, Svetlana M., Kharode, Chaula, Verma, Ram S.

“…We report on a new case with ring chromosome 16. Initially, the cytogenetic findings with GTG‐banding revealed a 46, XY, r(16)(::p13.3 → q24::)/46, XY…”
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To rule out chromosomal abnormalities: a sagacious view by Verma, R S, Kleyman, S M, Azar, G M, Conte, R A

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Molecular characterization of 21p- variant chromosome by Conte, R A, Mathews, T, Kleyman, S M, Verma, R S

“…Fortuitously, within a 1-month period, we were referred two individuals for routine cytogenetic amniocenteses involving one chromosome 21 from each patient,…”
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A de novo interstitial deletion of chromosome 15 band q25 as revealed by FISH-technique by Verma, R S, Kleyman, S M, Giridharan, R, Ramesh, K H

“…We report a new chromosomal finding in a 20 month-old girl. The minor clinical features included: moderate mental retardation, microcephaly, mild hypotonia and…”
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Chromosomal mosaicisms during prenatal diagnosis by Verma, R S, Kleyman, S M, Conte, R A

“…Chromosomal mosaicism during prenatal diagnosis has been a major concern. Nondisjunctional events can lead to mosaicism in a number of ways, including failure…”
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Incidence of breakpoints in pericentric inversions of chromosome 4 by Verma, R S, Kleyman, S M

“…We report a new pericentric inversion of chromosome 4 in a female who has had two consecutive fetal losses during the first trimester conception. Cytogenetic…”
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Probing the human genome in search for a new 3q syndrome by Azar, G M, Conte, R A, Kleyman, S M, Logush, A Z, Verma, R S

“…We report a case of partial trisomy 3q syndrome which could not be clinically identified as a distinct entity. The major clinical findings include: psychomotor…”
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An unusual G-negative band within 1qh region a rare variant or an abnormality? by Verma, R S, Kleyman, S M, Conte, R A

“…Morphological variations due to heterochromatic DNA of the secondary constriction region (qh) of human chromosome 1 are considered normal. The structural…”
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Pericentromeric heteromorphism of human chromosome 18 as revealed by FISH-technique by Verma, R S, Ishwar, L, Gogineni, S K, Kleyman, S M

“…The pericentromeric heterochromatin contains tandemly repeated alphoid DNA sequences of about 171 bp in length. They are highly divergent from one chromosome…”
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Characterization of an isodicentric Y-chromosome for the long arm in a newborn with mixed gonadal dysgenesis by Kohn, B, Kleyman, S M, Conte, R A, Macera, M J, Glassberg, K, Verma, R S

“…A newborn infant was referred for evaluation because of ambiguous genitalia. Examination of the genitalia revealed a hypospadiac phallus measuring 1.5 cm in…”
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Characterization of two extreme variants involving the short arm of chromosome 22: are they identical? by Conte, R A, Kleyman, S M, Laundon, C, Verma, R S

“…The heteromorphic nature of the short-arms of human acrocentric chromosomes is considered the norm without any dire consequences. We characterized two highly…”
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Characterization of a de novo t(Y;9) (q11.2;q22) by FISH technique by Conte, R A, Kleyman, S M, Klein, V, Bialer, M G, Verma, R S

“…A new case with a de novo translocation involving the long arms of chromosomes Y and 9 i.e. 46, X, t(Y;9) (q11.2;q22) was noted in a phenotypically normal male…”
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Tandem duplication of chromosome 14 (q12q13) by Verma, R S, Kleyman, S M, Conte, R A, Laqui-Pili, C, Bennett, H

“…A nine-years-old Egyptian boy was referred for speech and language delay. He has an I.Q. of 35 which is in the moderately to severely delayed range. Routine…”
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Centromeric alphoid sequences are breakage prone resulting in pericentromeric inversion heteromorphism of qh region of chromosome 1 by Verma, R S, Ramesh, K H, Mathews, T, Kleyman, S M, Conte, R A

“…Structural variations in the pericentromeric region of chromosome 1 are considered the norm. We characterized a chromosome 1 with an inversion by…”
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Significance of a prenatally diagnosed del(10)(q23) by Zaslav, A.L., Fox, J.E., Jacob, J., Kazi, R., Allan, S., Shklooskaya, T., Sohal, D., Kleyman, S.M., Verma, R.S.

“…Structural chromosome mosaicism is rare. We report a case of prenatal mosaicism for a deletion of chromosome 10(q23). To our knowledge, there are only three…”
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Paracentric inversion involving the long arm of chromosome 9 resulting in deletion of abl gene by Kleyman, Svetlana M., Parekh, Aruna J., Rodriguez, Abraham R., Conte, Robert A., Verma, Ram S.

“…We report on a new chromosomal finding in a newborn male with hypertelorism, apparently low‐set malformed ears with patent canal, micrognathia with narrow…”
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