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Prenatally diagnosed chromosome 1p36 deletions: a retrospective case series, literature review, and genotype-phenotype correlations. [PDF]

BMC Med Genomics
Liu N, Liu Z, Yi S, Li M, Cai H.
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Deletion of chromosome 13 in leiomyomas of the uterus

Cancer Genetics and Cytogenetics, 1991
We report two cases of leiomyomas of the uterus with a deletion of the long arm of chromosome 13. To our knowledge this cytogenetic abnormality as a single change has not been reported previously. One of our cases showed a del(13)(q14q32) and the other a del(13)(q13q33).
A M, Meloni, U, Surti, A A, Sandberg
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Retinoblastoma and Subband Deletion of Chromosome 13

Archives of Pediatrics & Adolescent Medicine, 1978
Two patients with retinoblastoma and an interstitial deletion of the long arm of chromosome 13 were studied using G-banded metaphase and prophase chromosomes. One patient showed several congenital defects, developmental retardation, and deletion of bands q14 and q21.
J J, Yunis, N, Ramsay
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Deletion of long arms of chromosome 13

Human Genetics, 1975
The case is presented of a girl with the banded karyotype 46,XX,del(13)(q22) and a phenotype of severe mental and growth deficiency, mongoloid slant of palpebral fissures, ptosis, hypertelorism, microcephaly, microstomia, micrognathia, nystagmus, gothic palate, uvula fissa, low-set malformed ears, short fingers, pedes excavati, dislocation of hips and ...
M, Kucerovă, Z, Polívková, M, Pokorná   +2 more
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The Rieger Syndrome and a Chromosome 13 Deletion

Journal of Pediatric Ophthalmology & Strabismus, 1987
ABSTRACT The Rieger syndrome, characterized by a prominent Schwalbe line, iris strands to the cornea, iris hypoplasia, dental abnormalities, facial malformations, and umbilical defects, is inherited in an autosomal dominant pattern. We studied a boy with the ocular features of the Rieger syndrome, micrognathia, and redundancy of the ...
R A, Stathacopoulos, J B, Bateman, R S, Sparkes, R S, Hepler   +3 more
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Chromosome 13 deletion and retinoblastoma

Ophthalmic Paediatrics and Genetics, 1983
A retinoblastoma with a 13q 12-14 deletion is described. Systemic examination revealed psychomotor retardation, muscular hypotony and vascular rete patterns of the skin. The chromosomal aberrations in this tumor and the quantitative esterase D analysis are discussed.
J. François, A. Neetens, J. Dumon, I. Neetens   +3 more
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C1q nephropathy in a child with a chromosome 13 deletion

Pediatric Nephrology, 2006
C1q nephropathy (C1qNP) is a rare cause of childhood nephrotic syndrome (NS). We describe a child with retinoblastoma, lipomyelomeningocele and a chromosome 13 deletion who presented with massive proteinuria due to C1qNP. Despite steroid resistance, successful treatment of the NS was achieved with mycophenolate mofetil.
Isabel, Roberti, Sachin, Sachdev, Adam, Aronsky, Dae Un, Kim   +3 more
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Partial deletion of the long arm of chromosome No. 13

Human Genetics, 1977
A case of partial deletion of chromosome No. 13 identified by G banding as 46, XX, del(13)(q21--ater) is reported in an infant with severe microcephaly, microphthalmos, talipes calcaneovalus, and a single crease on each of the little fingers. A review of other cases of chromosome No.
A, Cuschieri, P V, Agius, J M, Scheres
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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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Deletion of chromosome 13 in osteosarcoma secondary to irradiation

Cancer Genetics and Cytogenetics, 1993
The cytogenetic analysis of a radiation-induced osteosarcoma in a 31-year-old male is presented. Complex karyotypic changes with numerical and structural abnormalities, including a del(13)(q12.3q21.1), were observed. This deletion may indicate that loss of RB1 gene (locus in 13q14) may be involved in the development of radiation-induced osteosarcoma.
Y Y, Ozisik, A M, Meloni, M M, Zalupski, J R, Ryan, F, Qureshi, A A, Sandberg   +5 more
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