04q313

4q31.3

Publication Details

  • Al-Kouatly H B, Chasen S T, Gilbert F, Ahner R, Alonso L M, Chervenak F A.: Correlation between rare chromosomal abnormalities and prenatal ultrasound findings. AJMG 10.1002/ajmg.10130;107:197-200, 2002. [PubMed: 11807899]
    Case 8=47,XX,+der(9)t(4;9)(q31.3;q32)mat.
    Mother was 35 years old. Cleft lip & palate, short long bones, horseshoe kidney, IUGR, mild polyhydramnios were noted during fetal ultrasound. D & E was performed.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4q+;9p+;9q+

  • Barnicoat A J, Docherty Z, Bobrow M: Where have all the fragile X boys gone? Develop. Med. Child Neurol. 35:532-539, 1993. [PubMed: 7684989]
    46,XY,t(4;7)(q31.3;p13)pat.
    Aberration: Simple translocation
    Negative band

  • Burke M S, Carroll J E, Burket R C.: Benign Rolandic epilepsy and chromosome 7q deletion. J. Child Neurol. 12:148-149, 1997. [PubMed: 9075027]
    46,XY,del(7)(q11.23q21.2),t(4;14)(q31.3;q32),inv(9)(p1q1)
    The 6 year old boy had progressively disruptive behavior with occasional displays of violence, microcephaly, and developmental delay.
    Band 7q21.2 was deleted.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 7q-
    Index Terms: Epilepsy benign Rolandic

  • Eiben B, Hammans W, Hansen S: Chromosomal rearrangement involving chromosomes 4, 6, 11 and 11. Hum. Genet. 79:193, 1988. [PubMed: 3391617]
    46,XX,t(4;11)(q313;q14),t(6;11)(q24;q21)mat.&"Mother:46,XX,t(6;11)(q24;q21)."&"Fetus:46,XX,-6,+der(6)t(6;11)(6pter -> 6q24::11q21 -> 11qter)mat,t(4;11)(q313;q14)mat."
    Proband was 29 years old and had three early spontaneous abortions. The last one was studied.
    Aberration: Double translocation
    Chromosomal Aneuploidy: 11q+,4q-
    Negative band

  • Giuffre M, La Placa S, Carta M, Cataliotti A, Marino M, Piccione M, Pusateri F, Meli F, Corsello G.: Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: further evidence for a putative gene on 4q. AJMG DOI=10.1002/ajmg.a.20561, 2003. [PubMed: 15057984]
    46,XX,del(4)(q31.3->qter)de novo
    The patient was 3 months old.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 4q-
    Index Terms: Hypercalciuria

  • Haddad B R, Schrock E, Meck J, Cowan J, Young H, Ferguson-Smith M A, du Manoir S, Ried T.: Identification of de novo chromosomal markers and derivatives by spectral karyotyping. Hum. Genet. 103:619-625, 1998. [PubMed: 9860306]
    Case 8 ascertained at amniocentesis for advanced maternal age.
    46,XX,der(21)t(21qter->21p11.2::4q31.3->4qter).
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 4q+
    Index Terms: SKY

  • 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 1.
    46,XY,t(4;21)(q31.3;q22).,Sister:46,XX,der(4),der(21),t(4;21)(q31.3;q22)pat.,Patient:46,XY,der(4),t(4;21)(4pter->4q31.3::21q22->21qter)pat.
    Patient had multiple congenital anomalies, and by one year of age had undergone some surgical repair work.
    The authors have reviewed data on 45 patients. Deletions of q31 and q32->qter produce an identifiable phenotype consisting of abnormal skull shape, hypertelorism, cleft palate, apparently low-set abnormal pinnae, short nose with abnormal bridge, virtually pathognomic pointed fifth finger and nail, congenital heart and genitourinary defects, moderate-severe mental retardation, poor postnatal growth, and hypotonia.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4q-
    Negative band

  • Palmer C, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation Nos. 478 and 479.
    46,XY,t(4;12)(q313;p13)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Ravnan J B, Chen E, Golabi M, Lebo R V.: Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. AJMG 66:250-256, 1996. [PubMed: 8985481]
    46,XY,dup(4)(q31.3q33?)de novo.
    Patient was 2 months old.
    Aberration: Duplication
    MIM#: 192430
    Chromosomal Aneuploidy: 4q+
    Index Terms: Velo-Cardio-Facial syndrome
    Negative band

  • Sandig K R, Mucke J, Trautmann U: The partial 4q monosomy. Report of a 5-year old boy with deletion 4q31.3 to qter. Europ. J. Ped. 138:254-257, 1982. [PubMed: 7117287]
    Aberration: Terminal deletion
    Negative band

  • Smith A, Gaha T J: Data on families of chromosome translocation carriers ascertained because of habitual spontaneous abortion. Aust. N. Z. J. Obst. Gynecol. 30:57-62, 1990. [PubMed: 2346453]
    Case 24, GA.
    46,XX,t(4;7)(q31.3;p15.2).
    Aberration: Reciprocal translocation
    Index Terms: Spontaneous abortion
    Negative band

  • Tejada M I, Mendoza R, Carbonero K, Lizarraga M A, Escudero F, Benito J A: Deletion of chromosome 4: 46,XY,del(4)(q31.3) after gamete intrafallopian transfer and in vitro fertilization-embryo transfer. Fert. Ster. 54:953-954, 1990. [PubMed: 2226935]
    46,XY,del(4)(pter->q31.3:)de novo.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 4q-
    Index Terms: GIFT-IVF
    Negative band