07q330

7q33

Publication Details

  • Arnolds M, Mattei M G, Rebuffel P, Mattei J F: Deleteion intercalaire du chromosome 7 (7q33 to q35). J. Genet. Hum. 30:61-68, 1982. [PubMed: 7130958]
    Patient Nadine G... in this report. Parental karyotypes were normal. Patient had normal factor XII level.
    46,XX,del(7)(pter->q33::q35->qter).
    Aberration: Interstitial deletion
    Positive band

  • Baeteman M A, Philip N, Mattei M G, Mattei J F: Clinical, chromosomal and enzymatic studies in four cases of rearrangements of chromosome 7. Clin. Genet. 27:564-569, 1985. [PubMed: 3839444]
    Patient No. 3.
    46,XX,del(7)(pter->q33::q35->qter)de novo.
    Aberration: Interstitial deletion
    Positive band

  • Bartsch O, Kalbe U, Ngo T K N, Lettau R, Schwinger E: Clinical diagnosis of partial duplication 7q. AJMG 37:254-257, 1990. [PubMed: 2248294]
    Patient 1.
    Mother=46,XX,t(7;14)(7pter->7q33::14p12->14pter;14qter->14p12::7q33->7qter).,46,XY,der(14),t(7;14)(q33;p12)mat.
    It is reported that when traits large fontanelle, macrocephaly, frontal bossing, hypotonia, short neck, and severe mental retardation were fed into the POSSUM program, the output listed 7q trisomy as the most likely diagnosis.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 7q+
    Positive band

  • Bogart M H, Cunniff C, Bradshaw C, Jones K L, Jones O W: Terminal deletions of the long arm of chromosome 7: five new cases. AJMG 36:53-55, 1990. [PubMed: 2333907]
    Patient 1.
    46,XY,del(7)(pter -> q33:)de novo.
    Patient was 15 years old with multiple defects.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 7q-
    Positive band

  • Malmgren H, Malm G, Sahlen S, Karlsson M, Blennow E.: Molecular cytogenetic characterization of an insertional translocation, ins(6;7)(p25;q33q34): Deletion/duplication of 7q33-34 and clinical correlations. AJMG 139A:25-31, 2005. [PubMed: 16222668]
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 7q-;7q+
    No band

  • Martin R H, Hulten M: Chromosome complements in 695 sperm from three men heterozygous for reciprocal translocations, and a review of the literature. Hereditas 118:165-175, 1993. [PubMed: 8335473]
    Patient was 37 years old.
    46,XY,t(7;20)(q33;p13).
    All possible 2:2 amd 3:1 products were observed. No interchromosomal effect on aneuploidy production was seen.
    Aberration: Reciprocal translocation
    Index Terms: Sperm ... chromosome
    Positive band

  • Pellestor F, Girardet A, Coignet L, Andreo B, Lefort G, Charlieu J P.: Cytogenetic analysis of meiotic segregation in sperm from two males heterozygous for reciprocal translocations using PRINS and humster techniques. Cytogenet. Cell Genet. 78:202-208, 1997. [PubMed: 9465888]
    Subject 2:
    46,XY, der t(7;9)(q33;p21)mat
    Patient is the father of a 6 year old normal healthy child. His spermogram was normal with a sperm count of 81 million/ml and a motility of 65%.
    Aberration: Reciprocal translocation
    Index Terms: PRINS,Sperm ... analysis,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,

  • Verma R S, Conte R A, Sayegh S E, Kanjilal D: The interstitial deletion of bands q33-35 of long arm of chromosome 7: a review with a new case report. Clin. Genet. 41:82-86, 1992. [PubMed: 1544217]
    46,XX,del(7)(q33q35)de novo.,46,XX,del(7)(pter->q33::q35->qter)de novo.
    The 4 year old was evaluated for speech and developmental delay. At birth, she was noted to have cleft lip and cleft palate, which was surgically repaired. Later, she developed deafness.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 7q-
    Positive band

  • Yue Y, Grossmann B, Holder S, Haaf T.: De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay. Hum. Genet. DOI=10.1007/s00439-005-1273-4; 117:1-8, 2005. [PubMed: 15834588]
    46,XX,t(7;10)(q33;q23.3)de novo,del(7)(7-Mb)pat
    The chromosome 7 breakpoint lies between BAC fragments 209G24D and J within intron 11. The chromosome 10 breakpoint lies in BAC subfragment 165M8J within intron 2.,A fusion gene SEC8L1(from chromosome 7)-PTEN (from chromosome 10) transcripts in the patient''s lymphoblast RNA.
    Aberration: RT,ID
    MIM#: 601728
    Chromosomal Aneuploidy: 7q-
    Index Terms: PTEN,Cowden syndrome,Macrocephaly