03q230

3q23

Publication Details

  • Al Husain M, Zaki O K.: A survey of 1,000 cases referred for cytogenetic study to King Khalid University hospital, Saudi Arabia. Hum. Hered. 49:208-214, 1999. [PubMed: 10436383]
    Case No. 1 in Table 4:
    46,XY,del(3)(q23q25)
    The referral diagnosis was ?Rubenstein Taybi syndrome.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 3q-
    Index Terms: Rubenstein Taybi syndrome

  • Alvarado M, Bocian M, Walker A P: Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype. AJMG 27:781-786, 1987. [PubMed: 3122568]
    Patient RS has East Indian background. Parental karyotypes were normal.
    46,XX,del(3)(q23q25).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 3q-
    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]
    der(4)t(3;4)(q23;p15).
    Mother was 29 years old. Case ascertained at 10 weeks because of nuchal translucency. MCA were noted at stillbirth.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 3q+;4p-

  • Boccone L, Meloni A, Falchi A M, Usai V, Cao A: "Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation \46,XY,t(3;7)(q23;q32)\." AJMG 51:258-259, 1994. [PubMed: 8074155]
    46,XY,t(3;7)(q23;32)de novo.
    Patient was 3 years old with blepharophimosis, epicanthus inversus and ptosis.
    Aberration: Reciprocal translocation
    MIM#: 110100
    Index Terms: Blepharophimosis,Epicanthus inversus,Ptosis,Blepharophimosis
    Negative band

  • 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(3;15)(q23;p12).
    Aberration: Reciprocal translocation
    Negative band

  • Daniel A, Stewart L, Saville T, Brookwell R, Paull H, Purvis-Smith S, Lam-Po-Tang P R L C: Prenatal diagnosis in 3,000 women for chromosome, X-linked, and metabolic disorders. AJMG 11:61-75, 1982. [PubMed: 7065004]
    46,XX,t(3;4)(q23;q32).
    Aberration: Simple translocation
    Index Terms: Metabolic disorders
    Negative band

  • De Baere E, Van Roy N, Speleman F, Fukushima Y, De Paepe A, Messiaen L.: Closing in on the BPES gene on 3q23: mapping of a de novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta-COP, distal to the breakpoint. Genomics 57:70-78, 1999. [PubMed: 10191085]
    Fukushima Y, Wakui K, Nishida T, Ueoka Y: "Blepharophymosis syndrome and de novo balanced autosomal translocation \46,XY,t(3;4)(q23;p15.2)\. Possible localization of blepharophymosis syndrome to 3q23." AJHG 47:A29, 1990.
    Fukushima Y, Wakui K, Nishida T, Ueoka Y: "Blepharophimosis sequence and de novo balanced autosomal translocation \46,XY,t(3;4)(q23;p15.2)\: possible assignment of the trait to 3q23." AJMG 40:485-487, 1991. [PubMed: 1746616]
    Patient Y.S. (2-9998-9).
    46,XY,t(3;4)(q23;p15.2)de novo.
    The 11 month old patient with blepharophimosis sequence involving short palpebral fissures, ptosis, epicanthus inversus, and telecanthus was studied.
    Aberration: Reciprocal translocation
    MIM#: 110100
    Index Terms: Blepharophimosis,Ptosis,Epicanthus inversus,Telecanthus
    Negative band

  • de Ru M H, Gille J J P, Nieuwint A W M, Bijlsma J B, van der Blij J F, van Hagen J M.: Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature. AJMG 137A: 81-87, 2005. [PubMed: 16015581]
    46,XY,del(3)(q23q24).
    The patient was 7.5 years old.
    The deleted region is between 7.7 and 12.9 Mb.contains genes FOXL2, ataxia-telangiectasia and Rad3-related protein (ATR).
    Aberration: Interstitial deletion
    MIM#: 110100
    Chromosomal Aneuploidy: 3q-
    Index Terms: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

  • Engelen J J M, Albrechts, J C M, Loots W J G, Hollanders-Crombach B H T M, Hamers A J H, Geraedts J P M.: Application of micro-FISH to delineate deletions. Cytogenet. Cell Genet. 75:167-171, 1996. [PubMed: 9040786]
    Case 1:
    46,XX,del(3)(q23q25)de novo
    The newborn girl was referred because of blepharophimosis, microphthalmia, low implated ears, enlarged ventricles, long fingers, and clinodactyly of the left digits III and IV.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 3q-
    Index Terms: micro-FISH

  • Franceschini P, Silengo M C, Davi G F, Bianco R, Biagioli M: Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies. Hum. Genet. 64:97, 1983. [PubMed: 6873944]
    46,XX,del(3)(q23q26).
    Aberration: Interstitial deletion
    Negative band

  • Gardner R J M, Docker H E, Fitzgerald P H, Parfitt R G, Romain D R, Scobie N, Shaw R L, Tumewu P, Watt A J: Mosaicism with a normal cell line and an autosomal structural rearrangement. J. Med. Genet. 31:108-114, 1994. [PMC free article: PMC1049669] [PubMed: 8182714]
    Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]
    Case 5:
    mos46,XX/46,XX,dir dup(3)(q23q27).
    Aberration: Direct duplication
    Chromosomal Aneuploidy: 3q+
    Index Terms: Mosaicism
    Negative band

  • Kadotani T, Kanata S, Kodama H, Kubo S, Watanabe Y: A chromosome study of the patients with heavy mental retardation. Proc. Jpn. Acad. (Ser. B) 60:129-130, 1984.
    Kadotani T, Kanata S, Kubo S, Kodama H, Watanabe Y: "A case of 1qh+, t(3;4)(q23;p14)." Proc. Jpn. Acad. (Ser. B) 61:83-85, 1985.
    46,XY,1qh+,rcp(3;4)(q23;p14).
    Aberration: Reciprocal translocation
    Negative band

  • Kleczkowska A, Fryns J P, Moerman F, Martens M, Eggermont E, Jaeken J, Van den Berghe H: "Trisomy 3q2 and Pierre-Robin sequence in a boy with unbalanced 46,XY,der(10), t(3;10)(q23;q26.3) de novo karyotype." Helv. Paediat. Acta 43:245-248, 1989. [PubMed: 3220792]
    M.W. in this report.
    46,XY,der(10),t(3;10)(10pter -> 10q26.3::3q23 -> 3qter)de novo.
    Parental karyotypes were normal.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 3q+
    Index Terms: Pierre Robin syndrome
    Negative band

  • Ko W-t, Lam W-f, Lo F-m, Chan W-k, Lam T-s.: Wisconsin syndrome in a patient with interstitial deletion of the long arm of chromosome 3: further delineation of the phenotype. AJMG 120A:413-417, 2003. [PubMed: 12838565]
    46,XX,del(3)(q23-q25).
    The 18 year old patient was refereed for evaluation of amenorrhea. Manifestations of the Wisconsin syndrome include craniosynostosis, sloping forehead, upslanting palpebral fissures, hypoplastic helices, and short fourth metatarsal with recessed fourth toes.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 3q-
    Index Terms: Wisconsin syndrome

  • Martsolf J T, Ray M: Interstitial deletion of the long arm of chromosome 3. Ann. Genet. 26:98-99, 1983. [PubMed: 6604494]
    Patient M.F.
    46,XX,del(3)(q23q25).
    Aberration: Interstitial deletion
    Negative band

  • Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]
    46,XX,t(3;8)(q23;q24).
    Aberration: Reciprocal translocation
    Negative band

  • Praphanphoj V, Goodman B K, Thomas G H, Niel K M, Toomes C, Dixon M J, Geraghty M T.: Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). Genomics 65:67-69, 2000. [PubMed: 10777667]
    46,XX,t(3;21)(q23;q22.1)de novo
    Aberration: Reciprocal translocation
    MIM#: 110100
    Index Terms: Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES)

  • Stevens C A, Qumsiyeh M B.: Syndromal frontonasal dysostosis in a child with a complex translocation involving chromosomes 3, 7 and 11. AJMG 55:494-497, 1995. [PubMed: 7762593]
    Patient B.P.:
    46,XY,t(7;3)(3;11)(7pter->7q21.3::3q27->3qter;3pter->3q23::11q21->11qter;11pter->11q21::3q23->3q27::7q21.3->7qter)de novo.
    The patient was 4 years old had typical features of frontonasal dysostosis including a widow''s peak, marked hypertelorism, absence of nasal tip, and widely separated nares, ASD, micropenis, small testes, club feet and scoliosis.
    Aberration: Complex translocation
    MIM#: 136760
    Index Terms: Frontonasal dysostosis
    Negative band