05q330

5q33

Publication Details

  • Alfi O S: Personal communication, 1978.
    46,XX,der(12),t(5;12)(q33;q24)mat,9qh+,21s+.
    46,XX,t(5;12)(q33;q24),9qh+,21s+.
    Aberration: Reciprocal translocation
    Negative band

  • Bartsch-Sandhoff M, Liersch R: Partial duplication 5q syndrome: Phenotypic similarity in two sisters with identical karyotype (Partial duplication 5q33 to 5qter and partial deficiency 8p23 to pter). Ann. Genet. 20:281-284, 1977. [PubMed: 305758]
    Passarge E, Bartsch-Sandhoff M, Rehder H: Fetal manifestation of a chromosomal disorder: Partial duplication of the long arm of chromosome 5 (5q33 to qter). Teratology 25:221-225, 1982. [PubMed: 7101200]
    Father of the patients (JoSc 190145/77E172) in this report.
    46,XY,t(5;8)(q33;p23).&"46,XY,t(5;8)(5pter -> 5q33::8p23 -> 8pter;8qter -> 8p23::5q33 -> 5qter)."
    Patient 1 (CoSc 080775/2376) proband, died at 11 months and autopsy was not performed and Patient 2 (AcSn 120369/2565), 7 years.
    46,XX,-8,+der(8),t(5;8)(q33;p23)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Blanco J, Egozcue J, Clusellas N, Vidal F.: FISH on sperm heads allows the analysis of chromosome segregation and inetr-chromosomal effects in carriers of structural rearrangements: results in a translocation carrier, t(5;8)(q33;q13). Cytogenet. Cell Genet. 83:275-280, 1998. [PubMed: 10072603]
    46,XY,t(5;8)(q33;q13).
    Aberration: Reciprocal translocation

  • 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(5;10)(q33;p14); t(5;17)(q33;p13).
    Aberration: Reciprocal translocation
    Negative band

  • Chen H, Tyrkus M, Cohen F, Woolley P V, Mayeda K, Bhogaonker A, Espiritu C E, Simpson W: "Familial partial trisomy 6q syndromes resulting from inherited ins(5;6)(q33;q15q27)." Clin. Genet. 9:631-637, 1976. [PubMed: 1277576]
    46,XY,der(5)ins(5;6)(5pter->5q33::6q15->6q27::5q33->5qter)mat.,The insertion was present in a balanced form in maternal grandmother and an uncle.
    Cases A.G. (000274) and G.W. in this report.
    46,XY,der(5)ins(5;6)(q33;q15q27)mat.
    Aberration: Direct insertion between two chromosomes
    Negative band

  • Estop A M, Cieply K, Munne S, Surti U, Wakim A, Feingold E.: Is there an interchromosomal effect in reciprocal translocation carriers? sperm FISH studies. Hum. Genet. DOI 10.1007/s004390000275, April 18, 2000. [PubMed: 10914681]
    Estop et al (2000) found an excess of chromosome 21 disomy in carriers than controls.
    46,XY,t(5;8)(q33;q13)
    Aberration: Reciprocal translocation

  • Frohlich G S, Falk R E: Prenatal detection of a balanced translocation: a counseling dilemma. BD-OAS XVIII(No. 3A):153-155, 1982. [PubMed: 7126788]
    46,XX,t(5;11)(q33;p15.1).,46,XY,der(5)der(11)t(5;11)(q33;p15.1)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Gibbons B, Tan S Y, Kee S K, Quaife R, Lim S T.: Interstitial deletion of chromosome 5 in a neonate due to maternal insertion, ins(8;5)(p23;q33q35). AJMG 86:289-293, 1999. [PubMed: 10482883]
    46,XX,ins(8;5)(p23;q33q35).,46,XX,der(5)ins(8;5)(p23;q33q35)mat.
    The patient died at the age of 3 months. Physical anomalies included hypertonicity, microcephaly, short neck, apparently low-set ears, micrognathia, camptodactyly, mild rocker bottom feet, and hammer toe. Cardiac anomalies included a large ventricular septal defect, patent ductus arteriosus, pulmonary hypertension and hypoplastic right ventricle.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 5q-

  • Giltay J C, Gerssen-Schoorl K B J, Luitse G H J, Dauwerse H G.: A case of de novo interstitial deletion of chromosome 5(q33q34). Clin. Genet. 52:173-176, 1997. [PubMed: 9377807]
    Patient A.E.:
    46,XX,del(5)(q33q34)de novo
    The patient had microcephaly, dysmorphic facial features including epicanthus, small biparietal distance and retrognathia, four-finger lines, and mild mental retardation. There was developmental delay at 3 years of age.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 5q-

  • Grass F 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. 619.
    46,XY,t(5;17)(q33;q25)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Hirschhorn K, Lucas M, Wallace I: Precise identification of various chromosomal abnormalities. Ann. Hum. Genet. 36:375-379, 1973. [PubMed: 4270654]
    Lucas M, Wallace I, Hirschhorn K: Recurrent abortions and chromosome abnormalities. J. Obstet. Gynaecol. Br. Commonw. 79:1119-1127, 1972. [PubMed: 4119033]
    Family La(Gc 765) in this report.
    46,XX,t(5;10)(5pter->5q33::10q11->10qter;,10pter->10q11::5q33->5qter).,47,XX,+14,der(5)der(10)t(5;10)(q33;q11)mat.
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band

  • Korner H, Tinschert S, Siebke K, Bollmann R, Chaoui R, Wilke T: Pranatale diagnose einer partiellen trisomie 5q mit zwerchfelldefekt. Z. Klin. Med. 46:427-429, 1991.
    46,XX,t(5;13)(q33;p11).&"46,XX and XY,-13,+der(13)t(5;13)(13qter -> 13p11::5q33 -> 5qter)mat."
    The indication of fetal blood sampling was a diaphragmatic hernia in fetus diagnosed by ultrasonography. Second pregnancy resulted in fetal death also with diaphragmatic hernia.
    Aberration: Reciprocal translocation
    MIM#: 229850
    Chromosomal Aneuploidy: 5q+
    Index Terms: Diaphragmatic hernia
    Negative band

  • Makino T, Tabuchi T, Nakada K, Iwasaki K I, Tamura S, Iizuka R: Chromosomal analysis in Japanese couples with repeated spontaneous abortions. Int. J. Fertil. 35:266-270, 1990. [PubMed: 1980661]
    46,XX,t(5;13)(q33;q34).
    Aberration: Reciprocal translocation
    Negative band

  • Paoloni-Giacobino A, Bottani A, Dahoun S P.: Pure partial trisomy 5q33->5q35 resulting from the adjacent-1 segregation of a paternal (5;14)(q33;p12) translocation. Ann. Genet. 42:166-169, 1999. [PubMed: 10526660]
    46,XY,der(14)t(5;14)(14qter->14p12::5q33->5qter)pat.
    The 14 yo was referred for evaluation of MR, short stature, and dysmorphic features.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 5q+

  • Rao N, Muenke M, Berry M, Pettenati M J: "Holoprosencephaly due to familial translocation t(5;7)(q33;q34): non-random association of 7q34 to qter." AJHG 49 (Suppl.):273, 1991.
    46,XX or XY,der(7),t(5;7)(q33;q34)pat.
    All three children of the two brothers had alveolar holoprosencephaly.
    Aberration: Reciprocal translocation
    Index Terms: Holoprosencephaly
    Negative band

  • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
    Data from Vivigen, Santa Fe.
    46,XY,t(5;6)(q33;q25).
    Ultrasound showed bilateral hydronephrosis. At birth ventricular septal defect, and diaphragmatic hernia was noted.
    Aberration: Reciprocal translocation
    Index Terms: Hydronephrosis,Ventricular septal defect (VSD),Diaphragmatic hernia
    Negative band

  • Zabel B, Baumann W A, Gehler J, Conrad G: Partial trisomy for short and long arm of chromosome No. 5. J. Med. Genet. 15:143-147, 1978. [PMC free article: PMC1013664] [PubMed: 641949]
    Case 2 in this report.
    46,XY,der(22),t(5;22)(q33;q13)pat.&"46,XY,der(22),t(5;22)(22pter -> 22q13::5q33 -> 5qter)pat."&Common features in 5q trisomy patients are inborn dystrophy, growth failure, psychomotor and statomotor retardation, microcephaly, facial dysmorphism, hypertelorism, antimongoloid slanting of the eyes, slight epicanthus, strabismus, large upper lip, large and dysmorphic ears, cardiac malformation, and joint limitation of the hips.
    Father of Case 2. His father had normal karyotypes.
    46,XY,t(5;22)(q33;q13).
    Sister of the proband.
    46,XX,der(5)der(22),t(5;22)(q33;q13)pat.
    Aberration: Simple translocation
    Index Terms: Congenital heart defects (cardiovascular anomalies),Ears ... accessory,Epicanthal folds,Eye ... antimongoloid,Facial dysmorphism,Hypertelorism,Joints ... anomalies,Lips ... large upper,Microcephaly,Statomotor retardation,Strabismus
    Negative band