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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-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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01p210

1p21
  • Barber J C K: Euchromatic heteromorphism or duplicaion without phenotypic effect? Prenat. Diag. 14:323-324, 1994. [PubMed: 8066046]
    Zaslav A L, Blumenthal D, Fox J E, Thomson K A, Segraves R, Weinstein M E: A rare inherited euchromatic heteromorphism on chromosome 1. Prenat. Diag. 13:569-573, 1993. [PubMed: 8415421]
    46,XY,der(1p+)mat, extra band in region p21 -> 31.
    Both the infant and mother are normal.
    Aberration: Duplication
    Chromosomal Aneuploidy: 1p+
    Positive band
  • Bene M, Duca-Marinescu D, Ioan D M, Maximilian C: De novo interestitial deletion del(1)(p21p32). J. Med. Genet. 16:323-327, 1979. [PMC free article: PMC1012682] [PubMed: 490590]
    A 14 year old girl who was overweight, had severe psychomotor retardation, short stature, a sheep-like face, malformed ears, skeletal and dermatoglyphic abnormalities. Parents had normal karyotypes.&46,XX,del(1)(pter -> p32::p21 -> qter).
    Aberration: Interstitial deletion
    Index Terms: Ears ... malformed,Face ... sheep-like,Stature ... short (low)
    Positive band
  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    Boue J, Boue A, Girard S, Thepot F: Diagnostic prenatal des anomalies chromosomiques Arch. Fr. Ped. 33:653-664, 1976. [PubMed: 999438]
    46,XX,t(1;4)(p21;p13); t(1;13)(p21;q12); inv(1)(p21p35?).
    Aberration: Reciprocal translocation
    Positive band
  • Eclache V, Benzacken B, Keetaneh A, Frain O.: A constitutional translocation t(1;4)(p21;p15) in a case of chronic lymphocytic leukemia. Ann. Genet. DOI=10.1016/S0003-3995(02)01134-6; 45:169-171, 2002. [PubMed: 12668161]
    46,XY,t(1;4)(p21;p15).
    Because of the occurence of another case of inv(1) with a breakpoint at p21, the involvement of that region (p21) in the development of lymphoproliferative syndrome is discussed.
    Aberration: Reciprocal translocation
    Index Terms: Chronic lymphocytic leukemia (CLL)
  • Finelli P, Giardino D, Russo S, Gottardi G, Cogliati F, Grugni G, Natacci F, Larizza L.: Refined FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p1-22 deletion in a patient with signs of 1p36 microdeletion syndrome. AJMG 99:308-313, 2001. [PubMed: 11251998]
    46,XY,der(1)inv(1)(p22p36.2)del(1)(p21p22).
    The 10 year old boy presented with pbesity, moderate MR, large anterior fontanelle at birth, mild physical anomalies including mid-face hypoplasia, deep-set eyes, long philtrum, and small mouth.
    Aberration: IP,ID
    Chromosomal Aneuploidy: 1p-
    No band
  • Hertz J M, Jensen P H: "Interstitial deletion 1p as a result of a de novo reciprocal 1p;2p translocation." Ann. Genet. 28:228-230, 1985. [PubMed: 3879434]
    Patient was 10 months old.
    46,XX,del(1)(p22.2 -> p21),t(1;2)(1pter -> 1p22.2::2p25 -> 2qter;2pter -> 2p25::1p21 -> 1qter).
    Aberration: Reciprocal translocation
    Positive band
  • Koch G A, Brown J A, Shows T B: Gene assignment of alpha-fucosidase and glucose dehydrogenase to the p21 leads to pter region of chromosome 1 in man. Somat. Cell Genet. 4:313-322, 1978. [PubMed: 567853]
    46,XX,t(1;4)(p21;p13).
    Aberration: Reciprocal translocation
    Positive band
  • Lindenbaum R H, Hulten M A, McDermott A, Seabright M: The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect? J. Med. Genet. 22:24-28, 1985. [PMC free article: PMC1049372] [PubMed: 3156995]
    Case 1.
    46,XX,t(1;17)(p21;q21).
    Aberration: Reciprocal translocation
    Index Terms: Down syndrome (Trisomy 21)
    Positive band
  • Ryan J, Barker P E, Shimizu K, Wigler M, Ruddle F H: Chromosomal assignment of a family of human oncogenes. PNAS 80:4460-4463, 1983. [PMC free article: PMC384058] [PubMed: 6576347]
    Index Terms: Oncogene
    Positive band
  • Saller D N, Keene C L, Sun C C, Schwartz S: The association of single umbilical artery with cytogenetically abnormal pregnancies. Am. J. Obstet. Gynecol. 163:922-925, 1990. [PubMed: 2403169]
    46,XX,inv(1)(p21p36),del(1)(p22.1 -> p22.3?).
    Aberration: IP,ID
    Index Terms: Single umbilical artery
    Positive band
  • Schurmann M, Wethling H, Niemeyer M L, Schwinger E: Familial chromosomal translocation leading to a partial trisomy 1p. Klin. Pad. 199:27-31, 1987. [PubMed: 2435950]
    Patient was 6 years old with facial dysmorphism, small stature, and syndactyly of the 4th and 5th toes, and mental and statomotoric development are not grossly affected.
    46,XX,t(1;5;15)(1pter -> 1p31::1p21 -> 1qter;5qter -> 5p14::15q21 -> 15qter;15pter -> 15q21::1p21 -> 1p31::5p15 -> 5pter).&"46,XX,der(1)der(5)der(15)t(1;5;15)(p21p31;p14p15;q21)mat."&"46,XX,-15,+der(15)t(1;5;15)(15pter -> 15q21::1p21 -> 1p31::5p15 -> 5pter)."
    Aberration: Complex translocation
    Chromosomal Aneuploidy: 1p+
    Index Terms: Facial dysmorphism,Stature ... short (low),Syndactyl(y)(ia)
    Positive band
  • Sherman S L, Iselius L, Gallano P, Buckton K E, Collyer S, DeMey R, Kristoffersson U, Lindsten J, Mikkelsen M, Morton N E, Nordensson I, Petersen M B, Wahlstrom J: Segregation analysis of balanced pericentric inversions in pedigree data. Clin. Genet. 30:87-94, 1986. [PubMed: 3757307]
    inv(1)(p21q35).
    Aberration: Inversion pericentric
    Positive band
  • Shows T B, Brown J A: A 1/2 translocation facilitates the assignment and regional mapping of eight enzyme loci on chromosomes 1 and 2 in somatic cell hybrids. AJHG 26:80A, 1974.
    Shows T B, Brown J A: Mapping chromosomes 1 and 2 employing a 1/2 translocation in somatic cell hybrids. BD-OAS XI(No. 3):251-255, 1975. [PubMed: 1203489]
    Tricoli J V, Shows T B: Regional assignment of human amylase (AMY) to p22top21 of chromosome 1. Somat. Cell Mol. Genet. 10:205-210, 1984. [PubMed: 6608795]
    Individual JoVa in this report.
    46,XX,t(1;2)(p21;q37).
    Aberration: Simple translocation
    Positive band
  • Stockton D W, Ross H L, Bacino C A, Altman C A, Shaffer L G, Lupski J R.: Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review. AJMG 71:189-193, 1997. [PubMed: 9217220]
    46,XX,del(1)(p21p22.3)de novo
    There were multiple congenital anomalise and the patient died due to irreparable cardiac condition after 44 days.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1p-
    No band
  • Sutherland G R, Bauld R, Bain A D: Observations on human amniotic fluid cell strains in serial culture. J. Med. Genet. 11:190-195, 1974. [PMC free article: PMC1013117] [PubMed: 4841087]
    46,XY,t(1;12)(p21;q21).
    Aberration: Simple translocation
    Positive band
  • Vekemans M J J, Cartier L, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 161.
    46,XY,t(1;20)(p21;p13)mat.
    Aberration: Reciprocal translocation
    Positive band
  • Vissers L E L M, de Vries B B A, Osoegawa K, Janssen I M, Feuth T, Choy C O, Straatman H, van der Vliet W, Huys E H L P G, van Rijk A, Smeets D, van Ravenswaaij-Arts C M A, Knoers N V, van der Burgt I, de Jong P J, Brunner H G, van Kessel A G, Schoenmakers E F P M, Veltman J A.: Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. AJHG 73:1261-1270;DOI=0002-9297/2003/7306-0006, 2003. [PMC free article: PMC1180392] [PubMed: 14628292]
    Patient 3:
    46,XX,der del(1)(p21p21)pat,<1Mb, 1 clone.
    The 23 year old had moderate MR, facial dysmorphism, short stature, ventricular septum defect.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1p-
    Index Terms: CGH array based
  • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
    46,XY,t(1;7)(p21;p21).
    Aberration: Reciprocal translocation
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106746
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