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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Bajnoczky K, Mehes K: Parental centromere separation sequence and aneupolidy in the offspring. Hum. Genet. 78:286-288, 1988. [PubMed: 2964398]
- Chamla Y: C-anaphases rediscovered. Hum. Genet. 79:93, 1988. [PubMed: 3366468]
Chamla Y: C-anaphases in lypmhocyte cultures versus premature centromere division syndromes. Hum. Genet. 78:111-114, 1988. [PubMed: 3276615]Lively exchanges of Letters to the Editor with regard to priority and terminology. - Fitzgerald P H, Archer S A, Morris C M: Evidence for the repeated primary non-disjunction of chromosome 21 as a result of premature centromere division (PCD). Hum. Genet. 72:58-62, 1986. [PubMed: 2935477]
Fitzgerald P H, Pickering A F, Mercer J M, Miethke P M: Premature centromere division: a mechanism of non-disjunction causing X chromosome aneuploidy in somatic cells of man. Ann. Hum. Genet. 38:417-428, 1975. [PubMed: 1190734]It is hypothesized that the 28 year old mother of three conceptuses with trisomy 21 had a predisposition to irregular centromere separation especially X, 18, and 21.MIM#: 176430Index Terms: Down syndrome (Trisomy 21),Edwards syndrome (trisomy 18) - Fitzgerald P H: Premature centromere division. Hum. Genet. 90:190-191, 1992. [PubMed: 1427782]
- Gabarron J, Jimenez A, Glover G: Premature centromere division dominantly inherited in a subfertile family. Cytogenet. Cell Genet. 43:69-71, 1986. [PubMed: 3780318]
- Kajii T, Ikeuchi T, Yang Z-Q, Nakamura Y, Tsuji Y, Yokomori K, Kawamura M, Fukuda S, Horita S, Asamoto A.: Cancer-prone syndrome of mosaic variegated aneuploidy and total premature chromatid separation: report of five patients. AJMG DOI=10.1002/ajmg.1580;104:57-64, 2001. [PubMed: 11746029]
Kajii T, Ikeuchi T.: Premature chromatid separation (PCS) vs. premature centromere division (PCD). AJMG DOI=10.1002/ajmg.a.20612, 2003. [PubMed: 15098246]An interesting discussion of the two term PCD and PCS which I have elected to combine into this single category for this database.
Kajii T, Kawai T, Takumi T, Misu H, Mabuchi O, Takahashi Y, Tachino M, Nihei F, Ikeuchi T.: Mosaic variegated aneuploidy with multiple congenital abnormalities: homozygosity for total premature chromatid separation trait. AJMG 78:245-249, 1998. [PubMed: 9677059]
Matsuura S, Ito E, Tauchi H, Komatsu K, Ikeuchi T, Kajii T.: Chromosomal instability syndrome of total premature chromatid separation with mosaic variegated aneuploidy is defective in mitotic-spindle checkpoint. AJHG 67:483-486, 2000. [PMC free article: PMC1287192] [PubMed: 10877982]Family 1 and 2:2.5 to 47% of the lymphocytes showed total PCS.Both patients died before the age of 2 years. They had severe pre- and post-natal growth retardation, profound developmental retardation, uncontrollable seizures, severe microcephaly, hypoplasia of the brain, Dandy-Walker anomaly, abnormal facial appearance, and bilateral cataract.MIM#: 176430Index Terms: Premature chromatid separation (PCS) - Keser I, Luleci G, Gunduz G.: Premature centromere division in three unrelated families. Ann. Genet. 39:87-90, 1996. [PubMed: 8766139]MIM#: 212790
- Madan K, Lindhout D, Palan A: Premature centromere division (PCD): a dominantly inherited cytogenetic anomaly. Hum. Genet. 77:193-196, 1987. [PubMed: 3653892]MIM#: 176430
- Mehes K, Buhler E M.: Premature centromere division: a possible manifestation of chromosome instability. AJMG 56:76-79, 1995. [PubMed: 7747791]
Mehes K, Kajtar P, Kosztolanyi G.: Association of nonsyndromic Wilms tumor with premature centromere division (PCD). AJMG DOI=10.1002/ajmg.10661; 112:215-216, 2002. [PubMed: 12244559]
Prabhakara K, Radha Ramadevi A.: Premature centromere division versus C-anaphases in cultures: need for consensus and guidelines. AJMG DOI=10.1002/ajmg.a.20310; 124A: 331, 2003 and 2004. [PubMed: 14708111]Wilms tumor was discovered in a 22-month old otherwise healthy child.Prabhakara and Radha Ramadevi (2003) question the use of the term PCD to describe the chromosome characteristic in the patient of Mehes et al (2002). They further consider that a case of C-anaphase with split centromeres and splayed chromatids involving most chromosomes.2 patients each with Ataxia telangiectasia (3 and 4) and Fanconi anemia (1 and 2) were studied.The authors suggest that PCD may be a manifestation related to potential malignancy.MIM#: 212790Index Terms: Premature centromere division (PCD) - Miller K, Muller W, Winkler L, Hadam M R, Ehrich J H H, Flatz S D: Mitotic disturbance associated with mosaic aneuploidies. Hum. Genet. 84:361-364, 1990. [PubMed: 2307459]Patient showed multiple anomalies.It is believed that premature centromere division is associated with various aneuploidies and probably represents a new mutation.
- Plaja A, Mediano C, Cano L, Vendrell T, Sarret E, Farran I, Sanchez M A.: Prenatal diagnosis of a rare chromosomal instability syndrome: variegated aneuploidy related to premature centromere division (PCD). AJMG DOI=10.1002/ajmg.a.10810, 2002. [PubMed: 12548747]Case ascertained because of a prior child with PCD-related variegated aneuploidy.Several (109) aneuploid cells, differing in trisomic constitutions, were found in the 281 amniotic fluid cultured cells.A nuchal translucensy was noted at the 12th week of pregnancy. The pregnancy was spontaneously lost at 17 weeks, 2 days after the cytogenetic lab report.
- Same entry as in Gonadal Dysgenesis (Rangnekar et al, 1990).
- Rudd N L, Teshima I E, Martin R H, Sisken J E, Weksberg R: A dominantly inherited cytogenetic anomaly: a possible cell division mutant. Hum. Genet. 65:117-121, 1983. [PubMed: 6654324]MIM#: 176430
- Stanley W S, Pai G S, Horger E O III, Yongshan Y, McNeal K S: Incidental detection of premature centromere separation in amniocytes associated with a mild form of Roberts syndrome. Prenat. Diag. 8:565-569, 1988. [PubMed: 3205861]
- Turleau C, Cabanis M O, Girault D, Ledeist F, Mettey R, Puissant H, Prieur M, de Grouchy J: Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies. AJMG 32:420-424, 1989. [PubMed: 2729362]
- Premature Centromere Division - Chromosomal Variation in ManPremature Centromere Division - Chromosomal Variation in Man
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