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


  • Bassett A S, McGillivray B C, Jones B D, Pantzar J T: Partial trisomy chromosome 5 cosegregating with schizophrenia. Lancet i:799-801, 1988. [PMC free article: PMC3139628] [PubMed: 2895320]
    Crowe R R, Black D W, Wesner R, Andreasen N C, Cookman A, Roby J: Lack of linkage to chromosome 5q11-q13 markers in six schizophrenia pedigrees. Arch. Gen. Psychiat. 48:357-361, 1991. [PubMed: 2009035]
    McGillivray B C, Bassett A S, Langlois S, Pantzar T, Wood S: Familial 5q11.2 to q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia. AJMG 35:10-13, 1990. [PMC free article: PMC3142272] [PubMed: 1967903]
    Mother:46,XX,inv ins(1;5)(q32.3;q13.3q11.2).,Patients 1 and 2:46,XY,-1,+der(1),inv ins(1;5)(q32.3;q13.3q11.2)mat.
    Using RFLP markers it is suggested that the gene for HEXB lies in the duplicated region. Location of a gene for schizophrenia in this region is also suggested.
    An Asian family from Canada with these two anomalies is reported.
    46,XY,-1,+der(1),inv ins(1;5)(1pter->1q32.3::5q13.3->5q11.2::1q32.3->1qter)mat.
    Aberration: Inverted insertions between chromosomes
    MIM#: 181500
    Chromosomal Aneuploidy: 5q+
    Index Terms: Schizophrenia
    Negative band
  • Lukusa T, Van Buggenhout G, Devriendt K, Meireleire J, Van Goethem G, Roelen L, Fryns J P.: Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q. Ann. Genet. 41:199-204, 1998. [PubMed: 9881182]
    46,XY,dir dup(1)(q32.3->q42)de novo, or ,46,XY,dir dup(1)(pter->q42::q32.3->q42::q42->qter)de novo
    The proband was 28 years old with MR, facial asymmetry, synophrys, strabismus, small rounded nose and full everted lower lip; partial syndactyly III-IV on the right hand, and bilateral complete syndactyly of toes II and III.
    Aberration: Direct duplication
    MIM#: 185900
    Chromosomal Aneuploidy: 1q+
    Index Terms: Zygodactyly
  • Van Buggenhout G, de Coen L, Fryns J P. : Partial trisomy 1q (1q32->1qter) in adulthood: further delineation of the phenotype. Ann. Genet. 41:77-81, 1998. [PubMed: 9706337]
    46,XX,der(8)t(1;8)(q32.3;p23)de novo
    The patient was 31 years old, severely mentally retarded with craniofacial dysmorphism, long face, epicanthal folds and downslanting palpebral fissures.
    FISH studies were done.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q+
  • Youssoufian H, Chance P, Tuck-Muller C M, Jabs E W: Association of a new chromosomal deletion \del(1)(q32q42)\ with diaphragmatic hernia: assignment of a human ferritin gene. Hum. Genet. 78:267-270, 1988. [PubMed: 3162227]
    Proband WT. H sub-unit of the ferritin gene.
    46,XY,del(1)(pter -> q32.3::q42.3 -> qter).
    Cell Strain JS.
    Aberration: Interstitial deletion
    MIM#: 134770
    Index Terms: Hernia ... diaphragmatic
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106255
PubReader format: click here to try


  • 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...