06q162

6q16.2

Publication Details

  • Correa-Cerro L, Garcia-Cruz D, Diaz-Castanos, Figuera L E, Sanchez-Corona J.: Interstitial deletion 6q16.2q22,2 in a child with ectrodactyly. Ann. Genet. 39:105-109, 1996. [PubMed: 8766142]
    46,XY,del(6)(q16.2q22.2)
    The patient was 16 months old with MCA including psychomotor retardation, short stature, microbrachycephaly, triangular face, agenesis of fourth finger on the right hand and of nail in the second finger.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6q-
    Index Terms: Ectrodactyly
    No band

  • Evers L J M, Schrander-Stumpel C T R M, Engelen J J M, Hoorntje T M, Pulles-Heintzberger C F M, Schrander J J P, Albrechts J C M, Peters J, Fryns J P.: Deletion of the long arm of chromosome 6: two new patients and literature review. Clin. Genet. 50:138-144, 1996. [PubMed: 8946112]
    Patient 1:
    46,XX,del(6)(q16.2q23.1),ish(cC16-37 and cC16-44x1)de novo.
    The patient was 4 years old with microcephaly, asymmetric face and mild dysmorphism.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6q-
    Negative band

  • Goobie S, Morrison J, Ginzberg H, Ellis L, Corey M, Masuno M, Imaizumi K, Kuroki Y, Fujiwara T M, Morgan K, Durie P R, Rommens J M.: Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation. AJMG 85:171-174, 1999. [PubMed: 10406671]
    Ikegawa S, Masuno M, Kumano Y, Okawa A, Isomura M, Koyama K, Okui K, Makita Y, Sasaki M, Kohdera U, Okuda M, Koyama H, Ohashi H, Tajiri H, Imaizumi K, Nakamura Y.: Cloning of translocation brekpoints associated with Shwachman syndrome and identification of a candidate gene. Clin. Genet. 55:466-472, 1999. [PubMed: 10450865]
    Masuno M, Imaizumi K, Nishimura G, Nakamura M, Saito I, Akagi K, Kuroki Y.: Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2). J. Med. Genet. 32:894-895, 1995. [PMC free article: PMC1051744] [PubMed: 8592336]
    46,XX,t(6;12)(q16.2;q21.2)de novo.
    The 18 month old patient characterised by exocrine pancreatic insufficiency and bone marrow dysfunction with Shwachman syndrome is described.
    Aberration: Reciprocal translocation
    MIM#: 260400
    Index Terms: Shwachman syndrome
    Negative band

  • Hopkin R J, Schorry E, Bofinger M, Milatovich A, Stern H J, Jayne C, Saal H M.: New insights into the phenotypes of 6q deletions. AJMG 70:377-386, 1997. [PubMed: 9182778]
    Also see Hopkin et al under 06q110 for general comments on the three 6q deletion syndrome delineation.
    Case 2:
    Patient=46,XY,del(6)(q16.2q22.32)mat.,Mother=46,XX,dir ins(2;6)(q14.2;q16.2q22.32).
    Patient died while sleeping at the age of 16 months while in intensive care.
    Group B [del(6)(q15-q25)] is associated with increased intrauterine growth retardation, abnormal respiration, hypertelorism, and upper limb malformations.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6q-

  • Hulten M A, Gould C P, Goldman A S H, Waters J J: Chromosome in situ suppression hybridisation in clinical cytogenetics. J. Med. Genet. 28:577-582, 1991. [PMC free article: PMC1015785] [PubMed: 1956055]
    Case 2.
    46,XY,-7,+der dir ins(7;6)(q21.2;q16.2q23.1)pat.
    Child with developmental delay and dysmorphism.
    Chromosome painting was done.
    Aberration: Direct insertion between two chromosomes
    Index Terms: Chromosome specific paints CSP
    Negative band

  • Pandya A, Braverman N, Pyeritz R E, Ying K L, Kline A D, Falk R E.: Interstitial deletion of the long arm of chromosome 6 associated with unusual limb anomalies: report of two new patients and review of the literature. AJMG 59:38-43, 1995. [PubMed: 8849008]
    Case 1:
    46,XX,del(6)(q16.2q23.1).
    The infant had MCA including split hand and had profound developmental delay at one year of age.
    It is suggested that 6q2 is a candidate region for genes involved in limb development.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6q-
    Negative band

  • Patsalis P C, Evangelidou P, Charalambous S, Sismani C.: Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity. Europ. J. Hum. Genet. 12:647-653, 2004. [PubMed: 15162125]
    Case 10=46,XY,t(6;7)(q16;q34).,Revised=46,XY,der t(6;7;10)(q16.2;q34;q26.1)
    The CCR was familial and there were multiple miscarriages. One member in the family with the same abnormality has malformations and MR.
    Aberration: Complex translocation
    Index Terms: FISH-CCRs