NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

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].

Show details


  • Same entry as in 0Xp221,0Xq280 (Bardoni B et al, 1993).

  • Callen D F, Sutherland G R, Carter R F: "A fertile man with tdic(Y;22): how a stable neo-X1X2Y sex-determining mechanism could evolve in man." AJMG(Suppl.) 3:151-155, 1987. [PubMed: 3130849]
    45,X,dic(Y;22)(Ypter -> Yq11.23::22p11.2 -> 22qter).
    Negative band
  • Chandley A C.: Chromosome anomalies and Y chromosome microdeletions as causal factors in male infertility. Hum. Reprod. 13 (Suppl. 1):45-50, 1998. [PubMed: 9663769]
    Hargreave T B, Chandley A C, Ross A, Qureshi S, Cooke H.: Y chromosome microdeletions and male subfertility. Andrologia 28(Suppl. 1):19-21 , 1996. [PubMed: 9017092]
    Vogt P, Chandley A C, Hargreave T B, Keil R, Ma K, Sharkey A: Towards the molecular localization of AZF, a male fertility gene on the human Y chromosome by comparative mapping of microdeletions in the Y chromosome of men with idiopathic infertility. AJHG 49 (Suppl.):390, 1991.
    Aberration: Interstitial deletion
    MIM#: 415000
    Chromosomal Aneuploidy: Yq-
    Index Terms: Infertility
    Negative band
  • Delbridge M L, Harry J L, Toder R, Waugh O''Neill R J, Ma K, Chandley A C, Marshall Graves J A.: A human candidate spermatogenesis gene, RBM1, is conserved and amplified on the marsupial Y chromosome. Nature Genet. 15:131-136, 1997. [PubMed: 9020837]
    Index Terms: RNA-binding motif gene (RBM1)
    Negative band
  • Gatta V, Stuppia L, Calabrese G, Morizio E, Guanciali-Franchi P, Palka G.: A new case of Yq microdeletion transmitted from a normal father to two infertile sons. J. Med. Genet. 39:e27, 2002. [PMC free article: PMC1735151] [PubMed: 12070259]
    Stuppia L, Gatta V, Mastroprimiano G, Pompetti F, Calabrese G, Franchi P G, Morizio E, Mingarelli R, Nicolai M, Tenaglia R, Improta L, Sforza V, Bisceglia S, Palka G.: Clustering of Y chromosome deletions in subinterval E of interval 6 supports the existence of an oligozoospermia critical region outside the DAZ gene. J. Med. Genet. 34:881-883, 1997. [PMC free article: PMC1051112] [PubMed: 9391878]
    The father and his two sons had identical deletion involving AZFc with loss of DAZ, VCY2, and CDY1 but with different phenotypes.
    Aberration: Interstitial deletion
    MIM#: 415000
    Chromosomal Aneuploidy: Yq-
    Index Terms: Oligozoospermia
  • Gilgenkrantz S, Droulle P, Seboun E, Casanova M, Schweitzer M, Goosens M, Fellous M: Prenatal identification of a Y-chromosome deletion by Y-specific single copy DNA probes. Prenat. Diag. 6:307-311, 1986. [PubMed: 3748996]
    Mrs. C. had amniocentesis; infant had normal genitalia and psychomotor development was normal at 6 months.
    Aberration: Terminal deletion
    Negative band
  • Giltay J C, Ausems M G E M, van Seumeren I, Zewald R A, Sinke R J, Faas B, de Vroede M.: Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study. Europ. J. Pediat. 160:154-158, 2001. [PubMed: 11277375]
    The patient was 13.5 years. Her bone age was 12.6 years.
    mos45,X,der inv(10)(p11.2q21.2)pat[30]/,46,X,idic(Y)(q11.23),inv(10)(p11.2q21.2)[47]/,47,X,idic(Y)(q11.23)x2,inv(10)(p11.2q21.2)[5].
    Aberration: IC,DI
    MIM#: 424500
    Index Terms: Gonadoblastoma
  • Makrinou E, Fox M, Wolfe J, Cameron J, Taylor K, Edwards Y H.: DNM1DN: a new class of paralogous genomic segments (duplicons) with highly conserved copies on chromosomes Y and 15. Ann. Hum. Genet. 68:85-92, 2004. [PubMed: 15008788]
    Index Terms: Duplicons
  • Kobayashi K, Mizuno K, Hida A, Komaki R, Tomita K, Matsushita I, Namiki M, Iwamoto T, Tamura S, Minowada S, Nakahori Y, Nakagome Y.: PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis. Hum. Mol. Genet. 3: 1965-1967, 1994.
    Nagafuchi S, Namiki M, Nakahori Y, Kondoh N, Okuyama A, Nakagome Y: A minute deletion of the Y chromosome in men with azoospermia. J. Urol. 150:1155-1157, 1993. [PubMed: 8371377]
    54 men with idiopathic infertility were studied.
    46,XYq-, one patient.&47,XXY- 3 patients.&46,X,del(Y)(DYS7C) and/or (DYS1).
    Studies suggest that deletion of a gene (AZF) causes azoospermia.
    Aberration: Interstitial deletion
    MIM#: 308370
    Chromosomal Aneuploidy: Yq-
    Index Terms: Azoospermia ... spermatogenesis
    Negative band
  • Raimondi S C, Luthardt F W, Summitt R L, Martens P R: High-resolution chromosome analysis of phenotypically abnormal patients with apparently balanced structural rearrangements. Hum. Genet. 63:310-314, 1983. [PubMed: 6862433]
    Aberration: Reciprocal translocation
    Negative band
  • van der Ven K, Montag M, Peschka B, Leygraaf J, Schwanitz G, Haidl G, Krebs D, van der Ven H.: Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection. Mol. Hum. Reprod. 3:699-704, 1997. [PubMed: 9294854]
    The patient was evaluated for azoospermia.
    All markers distal to sY86 were deleted.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: Yq-
    Index Terms: Intracytoplasmic sperm injection (ICSI)
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107134


  • PubReader
  • Print View
  • Cite this Page

Related information

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...