Results 211 to 220 of about 287,317 (259)

Deletion of chromosome 22q11 and pseudohypoparathyroidism

American Journal of Medical Genetics, 1997
A newborn boy with complex congenital heart disease, unilateral renal agenesis, and hypocalcemia was found to have a submicroscopic deletion of 22q11.2 (DiGeorge anomaly). In evaluating the pathogenesis of the hypocalcemia, repeatedly elevated or normal levels of parathyroid hormone were found, consistent with a diagnosis of pseudohypoparathyroidism ...
W J, Craigen, E A, Lindsay, J T, Bricker, E P, Hawkins, A, Baldini   +4 more
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Chromosome 13 Deletion in Myeloma

1999
Multiple myeloma (MM) is characterized by a tremendous “genomic chaos” unique to this hematopoietic neoplasm. The lack of readily identifiable dominant cytogenetic abnormalities has presented an obstacle to molecular genetic research attempting to define lesions critical for myelomagenesis (Sawyer, et al., 1995).
J, Shaughnessy, B, Barlogie
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Chromosomal deletions in the myelodysplastic syndrome

Leukemia Research, 1992
Karyotypic abnormalities in primary myelodysplastic syndrome (P-MDS) are less frequent than in secondary myelodysplasia. A review of the literature involving over 3000 reported cases, shows the incidence of karyotypically abnormal clones at presentation in nearly 48% of cases.
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Chromosome deletion 1q42‐43

American Journal of Medical Genetics, 1986
AbstractWe report on a newborn male and a female of 3 years 9 months with de novo 1q42 or 43‐qter deletions. These cases are compared with ten other reported cases.
M S, Watson, J J, Gargus, K J, Blakemore, S N, Katz, W R, Breg   +4 more
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Chromosomal Deletions in AML

2009
Several, acquired, non-random chromosomal deletions have been characterized in acute myelogenous leukemia (AML). While the deletion limits vary among patients, there are consistent regions of overlap among the deleted segments between patients. Furthermore, chromosomal deletions are achieved frequently by unbalanced translocations between two and more ...
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Chromosomal Deletions in Streptococcus mutans

1997
The oral bacterium Streptococcus mutans possesses the ability to ferment a wide range of carbohydrates, which results in the production of acids that can cause demineralisation of tooth enamel and subsequent dental caries. However, it has been shown that approximately 11% of independent isolates of S.
C R, Lewis, R R, Russell
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Interstitial deletion of chromosome 21

Clinical Genetics, 1982
A case report of an infant with the karyotype 46, XX, int del (21) (q21q22) is presented, in whom the 21 deletion syndrome or “antimongolism” is well defined clinically.
N, Modi, K E, Buckton
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Chromosome healing of constitutional chromosome deletions studied by microdissection

Cytogenetic and Genome Research, 1998
Broken chromosomes are highly unstable and are subject to chromosome fusion or loss. As an exception, healing of human chromosomes occurs which can lead to constitutional or acquired terminal chromosome deletion disorders. Both <i>de novo</i> telomere addition at the breakpoint and telomere capture have been implicated as healing mechanisms.
J R, Vermeesch, D, Falzetti, G, Van Buggenhout, J P, Fryns, P, Marynen   +4 more
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Short arm deletion of chromosome 14

Human Genetics, 1972
3 cases with a Do-chromosome, designated by autoradiography as a No. 14, are presented by the authors. The first case was a mentally retarded boy with minor malformations. Cases 2 and 3 had normal phenotypes and were detected by cytogenetic investigation of family members of a mentally retarded boy with a ring G chromosome.
I, Emerit, B, Noel, M, Thiriet, M, Loubon, B, Quack   +4 more
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Interstitial deletion of chromosome 11q in a pineoblastoma

Cancer Genetics and Cytogenetics, 1989
A case of pineoblastoma with an interesting cytogenetic abnormality is reported. Chromosomal analysis of cultured cells from the tumor of a 10-week-old white male revealed an interstitial deletion of the long arm of chromosome 11, del(11)(q13.1q13.5). Tumors of the pineal region are relatively rare, and this is the first report of a pineoblastoma with ...
C, Sreekantaiah, H, Jockin, M L, Brecher, A A, Sandberg   +3 more
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