03q120

3q12

Publication Details

  • Same entry as in 0Xq220, 0Xq80 (Waters et al, 2001).

  • Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]
    Patient I.P.13587 in this report.
    46,XY,t(3;8)(q12;q12).&"46,XY,t(3;8)(3pter -> 3q12::8q12 -> 8qter;8pter -> 8q12::3q12 -> 3qter)."&"47,XY,+21,t(3;8)(q12;q12)pat."
    Aberration: Reciprocal translocation
    Negative band

  • Baena N, De Vigan C, Cariati E, Clementi M, Stoll C, Caballin M R, Guitart M, The EUROSCAN Working Group.: Prenatal detection of rare chromosomal autosomal abnormalities in Europe. AJMG DOI=10.1002/ajmg.a.10104; 118A:319-327, 2003. [PubMed: 12687662]
    del(3)(q12q21).
    Detected by ultrasound examination at 23 weeks, maternal age of 25 years, with omphalocele, still birth and diagnosis of Cornelia de Lange syndrome.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 3q-

  • Fujita H, Meng J, Kawamura M, Tozuka N, Ishii F, Tanaka N: Boy with a chromosome del(3)(q12q23) and blepharophimosis syndrome. AJMG 44:434-436, 1992. [PubMed: 1442882]
    46,XY,del(3)(pter -> q12::q23 -> qter)de novo.
    The 6 year old patient had bilateral blepharophimosis, ptosis, epicanthus inversus and other minor anomalies.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 3q-
    Index Terms: Blepharophimosis
    Negative band

  • Gamerdinger U, Bosse K, Eggermann T, Kalscheuer V, Schwanitz G, Engels H.: First report of a partial trisomy 3q12-q23 de novo-FISH breakpoint determination and phenotypic characterization. Europ. J. Med. Genet. DOI=10.1016/j.ejmg.2005.07.002; 49: 225-234, 2005 and 2006. [PubMed: 16762824]
    Initial=46,XY,ins(3;?)(q21?;?)de novo/ suggesting dup(q12-q23).,Refined=46,XY,ins(3;?)(q21?;?).ish dup(3)(q12q23)(wcp3+,pcp3p-,pcp3q+,939D5+,904D1+,949C10++,967F11++,766D8++,800G12++,925B1++,967H1+).
    The patient was one year old with mild MR, postnatal growth retardation and facial dysmorphisms such as frontal bossing, laterally accentuated bushy eyebrows, deep set eyes with long lashes, hypertelorism, and a borad nasal bridge.
    Aberration: Duplication
    Chromosomal Aneuploidy: 3q+

  • Gorski J L, Kistenmacher M L, Punnett H H, Zackai E H, Emanuel B S: Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families. AJMG 29:247-261, 1988. [PubMed: 3354596]
    Patient 2, was 7 years old.
    46,XY,t(3;4;6)(q12;q33;q13).
    Aberration: Complex translocation
    Negative band

  • Jhaveri R C, Verma R S, Rosenfeld W, Salazar D J, Dosik H, Evans H E: Chromosomal abnormality in the newborns of hepatitis B surface antigen (HBsAg) carrier mothers. Clin. Ped. 19:66-68, 1980. [PubMed: 7351098]
    Salazar D J, Rosenfeld W, Verma R S, Jhaveri R C, Dosik H: Partial trisomy of chromosome 3 (3q12 to qter) owing to 3q/18p translocation. A trisomy 3q syndrome. AJDC 133:1006-1008, 1979. [PubMed: 495588]
    Verma R S, Dosik H: Incidence of major chromosomal abnormalities in a referred population for suspected chromosomal aberrations: a report of 357 cases. Clin. Genet. 17:305-308, 1980. [PubMed: 7438487]
    Case 1 (No. 1286) in this report.
    46,XX,-18,+t(3;18)(q12;p11).&"46,XX,-18,+t(3;18)(18qter -> 18p11::3q12 -> 3qter)."&Both parents had normal karyotypes. The patient died after 42 days and had multiple congenital anomalies typical of 3q trisomy.
    Aberration: Simple translocation
    Negative band

  • Kasai R, Narahara K, Kikkawa K, Takahashi Y, Wakita Y, Kimura S, Kataoka N, Kimoto H: Reproductive risk of paracentric inversion carriers: report of two unrelated cases with paracentric inversion of the long arm of chromosome 3. Jpn. J. Hum. Genet. 30:57-67, 1985. [PubMed: 3841372]
    46,XX,rec(3),dup(q26.3),inv(3)(q12q29)pat.
    Case 1.
    46,XY,inv(3)(q12q29).
    Aberration: Inversion paracentric
    Negative band

  • Mann J, Wcislo K, 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. 307 and 308.
    46,XX,t(3;4)(q12;p14).
    Aberration: Reciprocal translocation
    Negative band

  • Neri G, Serra A, Campana M, Tedeschi B: Reproductive risks for translocation carriers: cytogenetic study and analysis of pregnancy outcome in 58 families. AJMG 16:535-561, 1983. [PubMed: 6660248]
    Sibship M.G. in this report.
    t(3;12)(q12;p13).
    Aberration: Reciprocal translocation
    Negative band

  • Ogilvie C M, Rooney S C, Hodgson S V, Berry A C. : Deletion of chromosome 3q proximal region gives rise to a variable phenotype. Clin. Genet. 53:220-222, 1998. [PubMed: 9630079]
    Case 1:
    46,XX,del(3)(q12q21)de novo
    Patient presented at the age of 4yrs 1mo of age because of poor development and growth. Both patients had hypotonia, lack of speech, high arched palate and pointed chin.
    Case 2:
    46,XY,del(3)(q12q21)de novo
    The patient was seen at 4mo of age, had plagiocephaly and at 17mo was profoundly retarded.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 3q-

  • Okada N, Hasegawa T, Osawa M, Fukuyama Y: A case of de novo interstitial deletion 3q. J. Med. Genet. 24:305-308, 1987. [PMC free article: PMC1050058] [PubMed: 3585947]
    Patient had craniofacial asymmetry, hypertelorism, epicanthus, high arched palate, scoliosis, multiple skin pigmentations; and was 8 years old.
    46,XX,del(3)(q12q21)de novo.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 3q-
    Index Terms: Epicanthal folds,Face ... asymmetric (hemi hypertrophy),Hypertelorism,Palate ... high arched,Scoliosis
    Negative band

  • Schonberg S, Golbus M S, 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 No. 368.
    46,XX,t(3;14)(q12;p12).
    Aberration: Reciprocal translocation
    Negative band

  • Toomey K E, Mohandas T K, Sparkes R S, Kaback M M, Rimoin D L: Segregation of an insertional chromosome rearrangement in 3 generations. J. Med. Genet. 15:382-387, 1978. [PMC free article: PMC1013736] [PubMed: 739529]
    46,XX,inv ins(3;13)(q12;q22q21).&"46,XX,inv ins(3;13)(3pter -> 3q12::13q22 -> 13q21::3q12 -> 3qter)."&The insertional chromosome was found to segregate in 3 generations. Segregation lead to all three types of individuals-monosomic, trisomic and balanced. Monosomy for segment 13q21->13q22 was associated with mental retardation, expressive aphasia, microcephaly, hand abnormalities, and short stature. Partially trisomic individuals had normal mentality, extremely high arched palate, and mild dysmorphic features. There was no evidence of retinoblastoma.
    Aberration: Inverted insertions between chromosomes
    Index Terms: Hand ... anomalies,Microcephaly,Palate ... high arched,Stature ... short (low)
    Negative band

  • Van de Rijn M, Geurts van Kessel A H M, Kroezen V, van Agthoven A J, Verstijnen K, Terhorst C, Hilgers J: Localization of a gene controlling the expression of the human transferrin receptor to the region q12 to qter of chromosome 3. Cytogenet. Cell Genet. 36:525-531, 1983. [PubMed: 6315310]
    MIM#: 190010
    Negative band

  • Yardin C, Esclaire F, Gilbert B, Brosset P, Hugon J, Barthe D: Identical chromosome imbalance in two siblings born to a mother with a double reciprocal translocation. Ann. Genet. 40:232-234, 1997. [PubMed: 9526620]
    Mother=46,XX,t(3;12)(q12;q21)de novo,t(4;17)(p14;p13)de novo.,Proband=46,XY,der t(3;12)mat,-17,+der(17)t(4;17),(17qter->17p13::4p14->4pter)mat.,Fetus=46,XX,der t(3;12)(q12;q21)mat,-17,+der(17)t(4;17)mat.,Sister=46,XX,der t(3;12)(q12;q21)mat.
    The mother sought advice for the proband because of dysmorphic facies, hearing impairment, hypospadias, and a developmental delay.
    The mother was lost to follow-up after declining elective abortion.
    Aberration: DT,RT
    Chromosomal Aneuploidy: 4p+;17p-
    Index Terms: Reciprocal translocation double

  • Yardin C, Esclaire F, Gilbert B, Brosset P, Hugon J, Barthe D.: Identical chromosome imbalance in two siblings born to a mother with a double reciprocal translocation. Ann. Genet. 40:232-234, 1997. [PubMed: 9526620]
    Mother=46,XX,t(3;12)(q12;q21),t(4;17)(p14;p13).,Index patient=46,XY,t(3;12)(q12;q21),-17,+der(17)mat.,Sister=46,XX,t(3;12)(q12;q21).,Fetus=46,XX,t(3;12)(q12;q21),-17,+der(17)mat.
    The 3yo index patient was evaluated because of dysmorphic facies, hearing impairment, hypospadias, and developmental delay.
    Aberration: DT,RT
    Chromosomal Aneuploidy: 4p+;17p-