04q340

4q34

Publication Details

  • Bezrookove V, Hansson K, van der Burg M, van der Smagt J, Hilhorst-Hofstee Y, Wiegant J, Beverstock G C, Raap A K, Tanke H, Breuning M H, Rosenberg C.: Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH. Hum. Genet. 106:392-398;DOI-10.1007/s004390000268, March 24, 2000. [PubMed: 10830905]
    10 familial and 11 isolated cases with abnormal phenotypes and normal G-banded karyotypes were evaluated because of the need of prenatal diagnosis, estimation of recurrence risk and conclusive diagnosis.
    Case 7:
    46,XX,der(4)t(4;5)(q34;p15.1)mat.
    The couple was referred for genetic counselling because of a 2 year old daughter with severe psychomotor retardation, microcephaly and dysmorphic features. The mother had borderline intelligence and some mild dysmorphic features.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4q-;5p+

  • Boceno M, Rival J M, Nomballais M F, David A, Avet-Loiseau H.: Characterization of two add(4qter) chromosomes by comparative genomic hybridization. Ann. Genet. 41:83-86, 1998. [PubMed: 9706338]
    Patient 1:
    46,XX,add(4)(q34).CGH rev ish enh(wcp15q23 or 4->qter)de novo
    Ultrasound examination at 21 weeks revealed MCA and autopsy showed several dysmorphic features.
    The pregnancy was terminated after 24 weeks. Loss of 4q material was not detected in both the cases!
    Patient 2:
    46,XX,add(4)(q34).CGH rev ish enh(wcp7q31or2->qter)de novo
    The child on day 15 after birth due to cardiac complications. A Pierre Robin-like syndrome was diagnosed.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 7q+;15q+;4q-
    Index Terms: CGH

  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    t(4;11)(q34;p14); t(4;14)(q34;q23).
    Aberration: Reciprocal translocation
    Positive band

  • Caliebe A, Waltz S, Jenderny J.: Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient. Clin. Genet. 52:116-119, 1997. [PubMed: 9298747]
    Patient A.B. was 4 years old.
    46,XY,del(4)(q34)de novo
    Characteristics present were thin upper lip, broad middle face, wide anteverted nares, long flat philtrum, medial flaring of the eyebrows and protruding ears.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 4q-
    No band

  • Cotter P D, Babu A, Willner J P, Desnick R J.: Prenatal diagnosis and outcome of mosaicism for a de novo unbalanced translocation identified in amniocytes. Prenat. Diag. 18:857-861, 1998. [PubMed: 9742579]
    mos46,XX,der(4)t(4;5)(q34;q12)de novo[10]/46,XX[52] in three primary cultures of amniocytes.,Cord blood and placental cultures showed normal chromosomes.
    At age 2, no phenotypic or developmental anomalies were noticed.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 5q+;4q-

  • de Vries B B A, Winter R, Schinzel A, van Ravenswaaij-Arts C.: Telomeres: a diagnosis at the end of the chromosomes. J. Med. Genet. 40:385-398, 2003. [PMC free article: PMC1735506] [PubMed: 12807958]
    de Vries et al (2003) review the data on subtelomeric deletion syndromes quite extensively.

    Fritz B, Greber-Platzer S, Frischer T, Streubel B, Groblacher J, Amann G, Ventruba P, Rehder H, Fonatsch C.: Familial cryptic translocation with del 4q34->qter and dup 12pter->p13 in sibs with tracheal stenosis: clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one abortion specimen. AJMG 94:271-280, 2000. [PubMed: 11038438]
    Mother=46,XX,t(4;12)(q34;p13).,Son and daughter=46,XX or XY,der(4)t(4;12)mat.,Two abortuses=46,XX and XY,der(4)t(4;12)mat.,Abortus at 8 weeks=47,XY,+der(4)t(4;12)mat.
    The tertiary trisomy abortus was a partial hydatidiform mole. Affected children were 7 years old and 9 months old (autopsied).
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4q-;12p+
    No band

  • Dewan K, Borgaonkar D S: Fragile site at 4q34. Braz. J. Genet. 15:723-724, 1992.
    46,XY,fra(4)(q34).
    The 35 year old was karyotyped because of history of repeated miscarriages.
    Aberration: Fragile sites
    Positive band

  • Dutrillaux B, Laurent C, Forabosco A, Noel B, Suerinc E F, Biemont M C, Cotton J B: La trisomie 4q partielle. Apropos de 3 observations. Ann. Genet. 18:21-27, 1975. [PubMed: 238457]
    Gandini E, Dallapiccola B, Laurent C, Suerinc E F, Forabosco A, Conconi F, Del Senno L: Evidence for localization of genes for human alpha-globin on the long arm of chromosome 4. Nature 265:65-66, 1977. [PubMed: 834243]
    46,XX,dup(4)(4pter->4q34::4q34->4q25::4q34->4qter).
    Aberration: Duplication
    MIM#: 141800
    Chromosomal Aneuploidy: 4q+
    Index Terms: Human alpha globin
    Positive band

  • Kuwano A, Sugio Y, Murano I, Kajii T: Common fragile sites induced by folate deprivation, BrDU and aphidicolin: their frequency and distribution in Japanese individuals. Jpn. J. Hum. Genet. 33:355-364, 1988. [PubMed: 3144619]
    This site is unique to BrDU.
    Aberration: Fragile sites
    Positive band

  • Lin A E, Garver K L, Diggans G, Clemens M, Wenger S L, Steele M W, Jones M C, Israel J: Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes. AJMG 31:533-548, 1988. [PubMed: 3067575]
    Patient 4.
    46,XY,del(4)(pter -> q34:).
    Patient was 23 years old with mild to moderate retardation; and some minimal dysmorphic features.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 4q-
    Positive band

  • Rethore M O, Ferrand J, Dutrillaux B, Lejeune J: "Trisomy 9p due to t(4;9)(q34;q21)mat." Ann. Genet. 17:157-161, 1974. [PubMed: 4548815]
    Case No. 011073 in this report.
    47,XX,der(9)t(4;9)(q34;q21)mat.
    Family I.P. (No. 13,371) in this report.
    46,XX,t(4;9)(q34;q21).&"46,XX,t(4;9)(4pter -> 4q34::9q21 -> 9qter;9pter -> 9q21::4q34 -> 4qter)."&"46,XX and XY,der(4)der(9)t(4;9)(q34;q21)mat."
    Aberration: Reciprocal translocation
    Positive band

  • Sanlaville D, Romana S P, Lapierre J M, Amiel J, Genevieve D, Ozilou C, Le Lorch M, Brisset S, Gosset P, Baumann C, Turleau C, Lyonnet S, Vekemans M.: A CGH study of 27 patients with CHARGE association. Clin. Genet. 61:135-138, 2002. [PubMed: 11940088]
    der(6)t(4;6)(q34;q25).
    Aberration: Reciprocal translocation
    MIM#: 214800
    Chromosomal Aneuploidy: 4q+;6q-
    Index Terms: CHARGE

  • Scholtes M C W, Behrend C, Dietzel-Dahmen J, van Hoogstraten D G, Marx K, Wohlers S, Verhoeven H, Zeilmaker G H.: Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. Fert. Steril. 70:933-937, 1998. [PubMed: 9806579]
    2,280 patients undergoing ICSI were studied.
    46,XY,t(4;19)(q34;q13.3)
    Aberration: Reciprocal translocation
    Index Terms: ICSI

  • Vogt J, Ryan E, Tischkowitz M D, Reardon W, Brueton L A.: The tale of a nail sign in chromosome 4q34 deletion syndrome. Clin. Dysmorphol. 15: 127-132, 2006. [PubMed: 16760729]
    5 cases are presented.
    Cases 1-3=46,XX,del(4)(q32q34)[del(dHAND) gene, using BAC 489G11 clone].,Case 4=46,XX,del(4)(q34).,Case 5=46,XX,del(4)(q32.2).
    A distinctive 5th finger with either hooked or a volar nail is often present in these patients and del(4q) should be ruled out.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 4q-
    Index Terms: Nail sign in 4q-