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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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  • Same entry as in 01q120 (de et al, 1998).

  • Same entry as in 01q210 (Finelli et al, 2001).

  • Al Husain M, Zaki O K.: A survey of 1,000 cases referred for cytogenetic study to King Khalid University hospital, Saudi Arabia. Hum. Hered. 49:208-214, 1999. [PubMed: 10436383]
    Case referred because of two repeated abortions.
    Aberration: Reciprocal translocation
  • Delgado Luengo W, Martinez A R, Lopez R O, Basalo C M, Rojas-Atencio A, Quintero M, Borjas L, Morales-Machin A, Ferrer S G, bernal L P, Canizalez-Tarazona J, Pena J, Luengo J D, Hernandez J C, Chang J C.: Del(1)(q23) in a patient with Hutchinson-Gilford progeria. AJMG DOI=10.1002/ajmg.10753; 113:298-301, 2002. [PubMed: 12439901]
    Erikson M, Brown W T, Gordon L B, Glynn M W, Singer J, Scott L, Erdos M R, Robbins C M, Moses T Y, Berglund P, Dutra A, Pak E, Durkin S, Csoka A B, Boehnke M, Glover T W, Collins F S.: Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature DOI=10.1038/Nature01629, 2003. [PubMed: 12714972]
    The 9-year-old patient was referred because of skin alterations and growth failure.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1q-
    Index Terms: Hutchinson-Gilford progeria (HGP)
  • de Pablo C E, Garcia-Sagredo J M, Ferro M T, Ferrando P, San Roman C: Interstitial deletion in the long arms of chromosome 1: 46,XY,del(1)(pter to q22::q25 to qter). J. Med. Genet. 17:483-486, 1980. [PMC free article: PMC1885930] [PubMed: 6937620]
    Karyotypes of parents were normal. Patient, 030177, had microbrachycephaly, with closed fontanelles and fused sutures, frontal bossing, sparse eyebrows, bilateral exophthalmus, epicanthus, and hypertelorism, low set ears, cleft lip and palate.
    Aberration: Interstitial deletion
    Index Terms: Cleft lip/palate,Ears ... low-set,Epicanthal folds,Fontanelles ... closed,Hypertelorism,Microbrachycephaly
    Positive band
  • Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]
    Case IV-1 from Hsia Y E.
    Normal female abortus.
    46,XX-fetal skin and fetal blood.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 1q-
    Positive band
  • Kirchhoff M, Rose H, Lundsteen C.: High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38:740-744, 2001. [PMC free article: PMC1734756] [PubMed: 11694545]
    Case 1=46,XY,del(1)(q22q22)de novo
    Case from a group of dysmorphic and MR subjects with normal or apparently balanced karyotypes.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1q-
  • Martin R H: "Sperm chromosome analysis of two men heterozygous for reciprocal translocations:t(1;9)(q22;q31) and t(16;19)(q11.1;q13.3)." Cytogenet. Cell Genet. 60:18-21, 1992. [PubMed: 1582252]
    Familial translocation was found to be paternally inherited and proband''s wife had miscarriages.
    Aberration: Reciprocal translocation
    Index Terms: Sperm ... chromosome analysis
    Positive band
  • Melis D, Perone L, Sperandeo M p, Sabbatino M S, Tuzzi M R, Romano A, Parenti G, Andria G: Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1. J. Med. Genet. 35:1047-1049, 1998. [PMC free article: PMC1051523] [PubMed: 9863608]
    46,XY,del(1)(q22q24)de novo
    The patient was referred at the age of 21 months for facial dysmorphism and psychomotor retardation.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1q-
  • Same entry as in 01q110 (Mertens et al, 1987).

  • Moghe M, Patel Z M, Peter J J, Ambani L M: Cytogenetic studies in a selected group of mentally retarded children. Hum. Genet. 58:184-187, 1981. [PubMed: 6456981]
    Patient LS was 7 months old, Parental karyotypes were normal.
    46,XX,del(1)(pter -> q22::q25 -> qter).
    Aberration: Interstitial deletion
    Positive band
  • Same entry as in 01p110 (Ramirez-Duenas and Gonzalez, 1992).

  • Same entry as in 01p130 (Schwanitz et al, 1977).

  • Subrt I: Reciprocal translocation with special reference to reproductive failure. Hum. Genet. 55:303-307, 1980. [PubMed: 7203462]
    46,XX and XY, der(1)der(18)t(1;18)(q22;pter)mat and pat.
    Case 2.
    Aberration: Simple translocation
    Positive band
  • Zaletajev D V, Dadalu E L, Kuleshov N P: Chromosome del(1)(q22 to q25). Cytogenetics and Phenotype. Cytology & Genetics 21:213-215, 1987.
    46,XY,del(1)(q22 -> q25).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1q-
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106677
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