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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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01q320

1q32
  • Abuelo D N, Barsel-Bowers G, Richardson A: Insertional translocations: report of two new families and review of the literature. AJMG 31:319-329, 1988. [PubMed: 2852898]
    Family 1.
    46,XY,inv ins(1;3)(q32;p13pter).
    Family was ascertained because of pregnancy loss.
    Aberration: Inverted insertions between chromosomes
    Index Terms: Insertional translocations
    Negative band
  • Al-Awadi S A, Farag T I, Usha R, El-Khalifa M Y, Sundareshan T S, Al-Othman S A: Interstitial deletion of the long arm of chromosome 1 del(1)(q32q42). AJMG 23:931-933, 1986. [PubMed: 3963055]
    Patient died after 7 days; parents were first cousins, and had normal karyotypes.
    46,XX,del(1)(pter -> q32::q42 -> qter).
    Aberration: Interstitial deletion
    Negative band
  • Alfi O S, Miller R C, Greene A E, Coriell L L: "A (1;2) translocation, balanced, 46 chromosomes. Repository identification No. GM-257." Cytogenet. Cell Genet. 14:154-155, 1975. [PubMed: 1149497]
    Sanger R, Alfi O S, Donnell G N: Partial trisomy 1q in 3 patients. AJHG 26:75A, 1974.
    46,XX,t(1;2)(q32;p23 or 5).&"Two children had partial trisomy for 1q, i.e., der(2)t(1;2)(q32;p23 or 5)mat.
    Aberration: Reciprocal translocation
    Negative band
  • 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]
    46,XX,t(1;4)(q32;q24)
    Patient referred because of short stature R/O Turner syndrome.
    Aberration: Simple translocation
  • 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. No. 6949 in this report.
    46,XY,t(1;10)(q3200;q212).&"46,XY,t(1;10)(1pter -> 1q32::10q212 -> 10qter;10pter -> 10q212::1q32 -> 1qter)."
    Aberration: Reciprocal translocation
    Negative band
  • Bocian M, Walker A P: Lip pits and deletion 1q32 to 41. AJMG 26:437-443, 1987. [PubMed: 3812594]
    Schutte B C, basart A M, Watanabe Y, Laffin J J S, Coppage K, Bjork B C, Daack-Hirsch S, Patil S, Dixon M J, Murray J C.: Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome. AJMG 84:145-150, 1999. [PubMed: 10323740]
    Patient was 41 months old; and parental karyotypes were normal.
    46,XX,del(1)(q32q41).
    Aberration: Interstitial deletion
    MIM#: 119300
    Index Terms: Van der Woude syndrome (VWS),Lips ... lip pits
    Negative band
  • Bonfante A, Stella M, Rossi G: "Partial trisomy of the long arm of chromosome 1 due to a familial translocation t(1;10)(q32;q26)." Hum. Genet. 45:339-343, 1978. [PubMed: 738733]
    46,XY,t(1;10)(q32;q26).&"46,XX,der(10),t(1;10)(q32;q26)pat."&"46,XX,-(10),+der(10),t(1;10)(10pter -> 10q26::1q32 -> 1qter)pat."&Proposita died 26 days after birth and autopsy revealed severe cardiac insufficiency.
    Aberration: Simple translocation
    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(1;2)(q32;q14); t(1;4)(q32;p16); t(1;4)(q32;q35); t(1;6)(q32;q26); t(1;7)(q32;q36); t(1;10)(q32;q24); t(1;10)(q32;q26).
    Aberration: Reciprocal translocation
    Negative band
  • Boue J, Daketse M J, Deluchat C, Ravise N, Yvert F, Boue A: Q and G banding techniques in the identification of chromosome anomalies in spontaneous abortions. Ann. Genet. 19:233-239, 1976. [PubMed: 1087852]
    46,XY,del(10),der(1),t(1;10)(q32;q21)pat.&Partial monosomy 10 and partial trisomy 1 but the details of the karyotype interpretation are not provided.
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Byrd J R, 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. 106
    46,XY,t(1;13)(q32;q34)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Campbell S A, Uhlmann W R, Duquette D, Johnson M P, Evans M I.: Pregnancy outcome when both members of a couple have balanced translocations. Obstet. Gynecol. 85:844-846, 1995. [PubMed: 7724133]
    Mother=45,XX,t(13q14q).,Father=46,XY,t(1;4)(q32;q25).,Child 1=45,XX,der t(13q14q)mat,der t(1;4)pat.,Child 2 and 3=45,XX,der t(13q14q)mat.
    The couple were ascertained because of three first-trimester spontaneous abortions.
    Aberration: Reciprocal translocation
  • Chandley A C: Male infertility and meiosis in man. Oligozoospermia: Recent progress in Andrology (Ed. G Frajese et al) 247-265, 1981.
    Chandley A C, Christie S, Fletcher J M, Frackiewicz A, Jacobs P A: Translocation heterozygosity and associated subfertility in man. Cytogenetics 11:516-533, 1972. [PubMed: 4658180]
    Chandley A C, Seuanez H, Fletcher J M: Meiotic behavior of five human reciprocal translocations. Cytogenet. Cell Genet. 17:98-111, 1976. [PubMed: 975939]
    Patient J.U., M. R. C. Registry No. K187-288-71 in this report.&"46,XY,t(1;18)(q32;q21)."&"46,XX and XY,der(1)der(18)t(1;18)(q32;q21)pat."
    Aberration: Reciprocal translocation
    Index Terms: Oligospermia,Oligozoospermia,Sterility ... male
    Negative band
  • Chinen Y, Tohma T, Izumikawa Y, Naritomi K, Hirayama K. : Characterization of marker chromosomes by FISH using microdissected probes from old Carnoy-fixed cells: report of two cases. Jpn. J. Hum. Genet. 42:543-549, 1997. [PubMed: 9560955]
    Patient A:
    46,XX,t(1;17)(17qter->17p13::1q32->1qter)de novo.
    The patient was 2 years old with severe psychomotor retardation, failure to thrive, and MCA.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 1q+;16q+
    Index Terms: Microdissected probe
  • Crandall B, 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. 67.
    46,XX,t(1;7)(q32;p22)pat.
    Observation No. 8
    46,XY,-2,+der(2),t(1;2)(q32;q37)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Cunniff C, Jones K L, Benirschke K: Ovarian dysgenesis in individuals with chromosomal abnormalities Hum. Genet. 86:552-556, 1991. [PubMed: 2026420]
    46,XX,der(4)t(1;4)(q32;p14).
    Associated malformations noted were hydrocephalus, iris colobomata, cleft lip and palate, cystic renal dysplasia.
    Aberration: Simple translocation
    Negative band
  • Dallapiccola B, Lungarotti M S, Falorni A, Magnani M, Dacha M: Evidence for the assignment of GUK 1 gene locus to 1q32 to q43 segment from gene dosage effect. Ann. Genet. 23:83-85, 1980. [PubMed: 6249178]
    46,XY,dir dup(1)(pter -> q43::q31 -> q43::q43 -> qter).
    Patient was malformed and mentally retarded. Karyotypes of parents were normal, father was 25 and mother was 20 years old, respectively.
    Aberration: Duplication
    MIM#: 139270
    Negative band
  • Desroches G A, Bradshaw C L, Jones O W: A balanced reciprocal chromosomal translocation in three generations. Ann. Int. Med. 79:407-410, 1973. [PubMed: 4127060]
    46,XY,t(1;2)(q32;q13).&"46,XY,t(1;2)(1pter -> 1q32::2q13 -> 2qter;2pter -> 2q13::1q32 -> 1qter)."&"46,XX and XY,der(1)der(2)t(1;2)(q32;q13)pat."
    Aberration: Reciprocal translocation
    Negative band
  • Dewald G W, Michels V V: Recurrent miscarriages: cytogenetic causes and genetic counseling of affected families. Clin. Obst. Gynecol. 29:865-885, 1986. [PubMed: 3545589]
    46,XY,t(1;22)(q32;q11).&"47,XY,+der(22),t(1;22)(22pter -> 22q11::1q32 -> 1qter)pat."
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q+
    Negative band
  • Estop A M, Marquez C, Munne S, Navarro J, Cieply K, Van Kirk V, Martorell M R, Benet J, Templado C.: An analysis of human sperm chromosome breakpoints. AJHG 56:452-460, 1995. [PMC free article: PMC1801134] [PubMed: 7847382]
    A positive significant correlation was found between sperm breakpoints and sites of balanced chromosome de novo rearrangements detected at prenatal diagnosis.

    Templado C, Navarro J, Requena R, Benet J, Ballesta F, Egozcue J: "Meiotic and sperm chromosome studies in a reciprocal translocation t(1;2)(q32;q36)." Hum. Genet. 84:159-162, 1990. [PubMed: 2298451]
    46,XY,t(1;2)(q32;q36).
    Aberration: Reciprocal translocation
    Negative band
  • Francke U: Regional mapping of human MDH-1 and IDH-1 on chromosome 2, LDHA on chromosome 11, and thymidine kinase on chromosome 17. AJHG 26:31A, 1974.
    46,XY,t(1;2)(q32;q13).&"46,XY,t(1pter -> 1q32::2q13 -> 2qter;2pter -> 2q13::1q32 -> 1qter)."&This report may be on the same material as that of Desroches et al, 1973.
    Aberration: Reciprocal translocation
    Negative band
  • Fryns J P, de Muelenaere A, Pedersen J C, van den Berghe H: Partial distal 1q trisomy. A distinct clinical dysmorphic syndrome in adulthood. Ann. Genet. 23:181-182, 1980. [PubMed: 6968537]
    Patient D. M. was 19 years old. Karyotypes of parents were normal. Patient was severely retarded and other anomalies were similar -> those described in patients with this chromosomal anomaly.&"46,XX,-14,+t(1;14)(q32;q13)."
    Aberration: Simple translocation
    Negative band
  • Fryns J P, Kleczkowska A, Kubien E, Petit P, Van den Berghe H: Cytogenetic survey in couples with recurrent fetal wastage. Hum. Genet. 65:336-354, 1984. [PubMed: 6693122]
    46,XY,t(1;4)(q32;q31).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Gadow E C, Lippold S, Otano L, Serafin E, Scarpati R, Matayoshi T: Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes. AJMG 41:279-281, 1991. [PubMed: 1789279]
    46,XX,t(1;7)(q32;q32).
    Aberration: Reciprocal translocation
    Index Terms: Pregnancy ... loss
    Negative band
  • Garcia-Sagredo J M, San Roman C, Gallego Gomez M E, Lledo G: Fragile chromosome 16(q22) cause a balanced translocation at the same point. Hum. Genet. 65:211-213, 1983. [PubMed: 6654336]
    46,XY,fra(16)(q22).
    Patient was 6 years old with psychomotor retardation.
    46,XY,t(1;16)(q32;q22).
    Aberration: Simple translocation
    Negative band
  • Garzicic B, Guc M, Petrovic-Novak A, Korac D: Three cases of balanced familial translocations with different expression in their carriers. Genetika (Yugoslavia) 13:73-76, 1981.
    Family No. 2: 46,XY,t(1;5)(q32;p15).
    46,XY,der(1)der(5)t(1;5)(q32;p15)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Geiger C J, Salzano F M, Mattevi M S, Erdtmann B, da Rocha F J: Chromosome Variation and genetic counseling-20 years of experience in Brazil. Brazil. J. Genet. 10:581-591, 1987.
    Case 1594, I. S. D., Mother had fertility problems.
    46,XX,t(1;3)(q32;q35).
    Aberration: Simple translocation
    Negative band
  • Higgins A W, Alkuraya F S, Bosco A F, Brown K K, Bruns G A P, Donovan D J, Eisenman R, Fan Y, Farra C G, Ferguson H L, Gusella J F, Harris D J, Herrick S R, Kelly C, Kim H-G, Kishikawa S, Korf B R, Kulkarni S, Lally E, Lecah N T, Lemyre E, Lewis J, Ligon A H, Lu W, Maas R L, MacDonald M E, Moore S D P, Peters R E, Quade B J, Quintero-Rivera F, Saadi I, Shen Y, Shendre J, Willimason R E, Morton C C.: Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. AJHG 82: 712-722, 2008. [PMC free article: PMC2427206] [PubMed: 18319076]
    40 rearrangements were investigated. 77 breakpoints were characterized.
    DGAP018=46,XX,ins(3;1)(q23;p22p32), presently revised to 46,XX,t(1;9;5)(1pter->1q32::9p22-24::5q15->5qter;9pter-.9p24::9p22->9qter;5pter->5q15::1q32->1qter),
    18/40 karyotypes were revised. A number of them had deletions around the breakpoints.
    Aberration: Complex translocation
    Index Terms: DGAP
  • Hindi A, Beneck D, Greco M A, Wolman S R: "18q+, the progeny of a balanced translocation t(1;18)mat: case report with necropsy findings." J. Med. Genet. 23:263-266, 1986. [PMC free article: PMC1049641] [PubMed: 3723558]
    A stillborn infant is described.
    46,XX,t(1;18)(q32;q22).&"46,XX,-18,+der(18)t(1;18)(18pter -> 18q22::1q32 -> 1qter)mat."
    Aberration: Reciprocal translocation
    Index Terms: Still born (premature)
    Negative band
  • Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points of structural rearrangments in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]
    M. R. C. Registry No. K187-238-71 in this report.
    46,XX,t(1;18)(q32;q21).
    Aberration: Simple translocation
    Negative band
  • Jalbert P, Jalbert H, Sele B, Mouriquand C, Malka J, Boucharlat J, Pison H: Partial trisomy for the long arms of chromosome No. 5 due to insertion and further ''aneusomie de recombinaison.'' J. Med. Genet. 12:418-423, 1975. [PMC free article: PMC1013326] [PubMed: 1219125]
    Individual II-1 in the pedigree.
    46,XY,ins(1;5)(q32;q11q22).&"46,XY,ins(1;5)(1pter -> 1q32::5q11 -> 5q22::1q32 -> 1qter)."
    Individual IV-2 in the pedigree.
    46,XX,rec(1)rec(5)ins(1;5)(q32;q11q22).&"46,XX,rec(1)rec(5)ins(1;5)(1pter -> 1q32::5q11 -> 5qter;5pter -> 5q22::1q32 -> 1qter)."&This individual is trisomic for region 5q11 -> 5q22.
    Individuals III-2, III-4, III-7 and IV-4 in the pedigree.
    46,XX or XY,der(1)der(5)ins(1;5)(q32;q11q22)mat and pat.
    Aberration: IX,RE
    Negative band
  • Joss S, Howatson A, Trainer A, Whiteford M, FitzPatrick D R.: De novo translocation (1;2)(q32;p25) associated with bilateral renal dysplasia. Clin. Genet. 63:239-240, 2003. [PubMed: 12694239]
    46,XY,t(1;2)(q32;p25)de novo
    Anomalies detected by ultrasound examination during pregnancy. Labor induced at 32 weeks because of oligohydramnios. Death after 1 hour at birth. Histology revealed renal dysplasia.
    Aberration: Reciprocal translocation
    MIM#: 179820
    Index Terms: Bilateral renal dysplasia,REN gene
  • Kanayama H-O, Lui W-O, Takahashi M, Naroda T, Kedra D, Wong F K, Kuroki Y, Nakahori Y, Larsson C, Kagawa S, Teh B T.: Association of a novel constitutional translocation t(1q;3q) with familial renal cell carcinoma. J. Med. Genet. 38:165-170, 2001. [PMC free article: PMC1734822] [PubMed: 11238683]
    II-9, III-3, III-6=46,XXorY,der t(1;3)(q32;q13.3)mat.
    The 1q breakpoint refined to a 3.6 cM region between clones 219p13 in 1q31-q32 and 45f21 in 1q32.2 and the 3q breakpoint to a 5 cM region between clones 214a5 in 3q13.3 and 165b13 in 3q13.3.
    Aberration: Reciprocal translocation
    MIM#: 144700
    Index Terms: Renal cell carcinoma familial
  • Kaur S: "A translocation 46,XY,t(1;2)(q32;q21) in a male with reproductive failure." Hum. Genet. 70:93, 1985. [PubMed: 3997158]
    Kaur S: Cytogenetic investigations on 100 couples with recurrent fetal wastage. Bionature 10:65-69, 1990.
    Kaur S: Errata Bionature 11:28, 1991.
    46,XY,t(1;2)(q32;q23).
    Aberration: Simple translocation
    Index Terms: Recurrent fetal wastage
    Negative band
  • Kucerova M, Polivkova Z, Dluholucky S, Kvasnicova M: Terminal deletion with stable acentric fragment of 1q in a child with congenital malformations. AJHG 35:91-95, 1983. [PMC free article: PMC1685492] [PubMed: 6823976]
    Parental karyotypes were normal.&46,XX,del(1)(pter -> q32:),+f(1)(:q32 -> qter).
    Aberration: Terminal deletion
    Negative band
  • Michels V V, Berseth C L, O''Brien J F, Dewald G W: Duplication of part of chromosome 1q: clinical report and review of literature. AJMG 18:125-134, 1984. [PubMed: 6430083]
    46,XY,t(1;22)(q32;q11).&"47,XY,+der(22)t(1;22)(22pter -> 22q11::1q32 -> 1qter)pat."&"46,XY,der(1)der(22)t(1;22)(q32;q11)pat."
    Aberration: Simple 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 S.F. in this report.
    t(1;6)(q32;q26).
    Aberration: Reciprocal translocation
    Negative band
  • Nielsen K B, Dyggve H V, Knudsen H, Olsen J: A chromosomal survey of an institution for the mentally retarded. Danish Med. Bull. 30:5-13, 1983. [PubMed: 6831943]
    Case No. 340-76.
    46,XY,t(1;7)(q32;p11).
    Aberration: Simple translocation
    Negative band
  • Nowaczyk M J M, Bayani J, Freeman V, Watts J, Squire J, Xu J.: De novo 1q32q44 duplication and distal 1q trisomy syndrome. AJMG DOI=10.1002/ajmg.a.20028;120A:229-233, 2003. [PubMed: 12833404]
    46,XY,dup(1)(q32q44)de novo
    Case detected prenatally because of abnormal ultrasound. Infant died at 9 months of age following tracheostomy.
    Aberration: Duplication
    Chromosomal Aneuploidy: 1q+
  • Nuno-Arana I, Gonzalez-Garcia J R, Garcia-Cruz D.: Further clinical delineation in trisomy 1q32 syndrome. Ann. Genet. 44:175-177, 2001. [PubMed: 11755100]
    46,XY,der(18)t(1;18)(q32;p11.3)pat.
    The newborn had MCA including prominent forehead, facial dysmorphism, ear malformations, congenital heart defect and limb anomalies.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q+
  • Osztovics M K, Toth S P, Wessely J A: Cytogenetic investigations in 418 couples with recurrent fetal wastage. Ann. Genet. 25:232-236, 1982. [PubMed: 6985013]
    46,XX,t(1;7)(q32;q36)mat.
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Palmer R W, Hulten M A: "Chiasma-derived genetic lengths and recombination fractions: a reciprocal translocation 46,XY,t(1;22)(q32;q13)." Ann. Hum. Genet. 47:299-310, 1983. [PubMed: 6651219]
    46,XY,t(1;22)(1pter -> 1q32::22q13 -> 22qter;22pter -> 22q13::1q32 -> 1qter).&"46,XY,-22,+der(22)t(1;22)(q32;q13)pat."
    Aberration: Reciprocal translocation
    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(1;13)(q32;q14).
    Aberration: Reciprocal translocation
    Negative band
  • Rehder H, Friedrich U: Partial trisomy 1q Syndrome. Clin. Genet. 15:534-540, 1979. [PubMed: 466853]
    46,XX,t(1;13)(q32;q34).&"46,XX,t(1;13)(1pter -> 1q32::13q34 -> 13qter;13pter -> 13q34::1q32 -> 1qter)."&"46,XX or XY,-13,+der(13)t(1;13)(q32;q34)mat."&Data on six cases of partial trisomy 1q, including four cases from the literature, are summarized with respect -> their clinical symptoms. Distinct similarities of the external aspect and of internal malformations allow the delineation of a syndrome of partial trisomy 1q.
    Aberration: Reciprocal translocation
    Negative band
  • Richkind K E, 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. 173.
    46,XX,t(1;22)(q32;q13)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Sarda P, Lefort G, Taviaux S, Humeau C, Rieu D: Interstitial deletion of chromosome 1 del (1)(q32q42): case report and review of the literature. Clin. Genet. 41:25-27, 1992. [PubMed: 1633642]
    46,XX,del(1)(q32q42)de novo.
    The child, with MCA/MR died at 4 months of age.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1q-
    Negative band
  • Savasan S, Lorenzana A, Williams J A, Mohamed A N, Ravindranath Y, Zielenska M, Hamre M, Haas J E, Rector F, Sawaf H, Abella E.: Constitutional balanced translocations in alveolar rhabdomyosarcoma. Cancer Genet. Cytogenet. 105:50-54, 1998. [PubMed: 9689930]
    Case 1:
    46,XY,der t(1;5)(q32;q31)pat.
    The patient was 9 years old with normal development and no dysmorphic features. The father, translocation carrier, had lipomas and was treated for prostrate cancer. The patient was being treated according to the Intergroup Rhabdomyosarcoma Study IV for Stage III disease and has shown good response to therapy.
    Aberration: Reciprocal translocation
    MIM#: 193500
    Index Terms: Rhabdomyosarcoma
  • Schinzel A A: "A further case of cyclopia due to unbalanced segregation of a previously reported rcp(1;7)(q32;q34) familial translocation." AJMG 24:205-206, 1984,1986. [PubMed: 3706408]
    One carrier female carried to term a pregnancy which was abnormal.
    46,XX and XY,rcp(1;7)(1pter -> 1q32::7q34 -> 7qter;7pter -> 7q34::1q32 -> 1qter).&"46,XY,-7,+der(7),rcp(1;7)(q32;q34)pat."&"46,XX,der(7)rcp(1;7)(q32;q34)mat."
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q+7q-
    Index Terms: Cebocephaly-holoprosencephaly,Cyclop(ia)(s)
    Negative band
  • Schinzel A A: "Duplication-deletion with partial trisomy 1q and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3)(q32;p25)." J. Med. Genet. 18:64-68, 1981. [PMC free article: PMC1048662] [PubMed: 7253002]
    46,XY,-3,+ der(3)rcp(1:3)(3qter -> 3p25::1q32 -> 1qter)mat.
    At 17 1/2 years of age the patient was severely mentally retarded and presented a pattern of multiple minor dysmorphic stigmata and anomalies, including hypertrichosis, synophrys, ocular hypertelorism, ptosis, convergent squint, cleft uvula and narrow palate, poorly modelled auricles, funnel chest, kyphoscoliosis, umbilical and inguinal hernias and cubitus valgus. He had normal stature and no other malformations.
    Aberration: Reciprocal translocation
    Index Terms: Chest ... funnel,Cubitus valgus,Hernia ... inguinal,Hernia ... umbilical,Hypertelorism,Hypertrichosis,Kypho-scoliosis,Ocular (optic) anomalies,Palate ... narrow,Ptosis,Synophrys,Umbilical hernia
    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. 47
    46,XX,t(1;5)(q32;p15.2).
    Observation No. 56.
    46,XX,t(1;6)(q32;p21).
    Aberration: Reciprocal translocation
    Negative band
  • Stetten G, 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. 121.
    46,XX,t(1;15)(q32;q26).
    Aberration: Reciprocal translocation
    Negative band
  • Taysi K, Sekhon G S: "Partial trisomy of chromosome No. 1 in two adult brothers due to maternal translocation (1q-;6p+)." Hum. Genet. 44:277-285, 1978. [PubMed: 730168]
    46,XY,6p+.&"46,XX,t(1;6)(q32;p25)."&"46,XY,-6,+der(6)t(1;6)(q32;p25)mat."&"46,XY,-6,+der(6)t(1;6)(6qter -> 6p25::1q32 -> 1qter)mat."&These patients, with mildly dysmorphic features and mental retardation, represent the first cases of partial trisomy 1q surviving -> adulthood. Data indicate that partial trisomy of the distal two-thirds of the long arm of No. 1 is characterized by severe malformations, growth retardation, and early death. Conversely, partial trisomy for the distal one-third of the long arm is associated with milder malformations and longer survival time as well as growth and mental retardation.
    Aberration: Simple translocation
    Negative band
  • Teshima I, 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. 112
    46,XY,t(1;14)(q32;q32)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Vekemans M J J, Cartier L, 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. 113
    46,XX,t(1;14)(q32;q32).
    Aberration: Reciprocal translocation
    Negative band
  • Voullaire L E, Webb G C: "Complex chromosome rearrangements involving chromosomes 1;3 and 2;3 in two abnormal children." Clin. Genet. 34:313-320, 1988. [PubMed: 3228999]
    Case 1
    46,XY,inv(1)(inv ins(1;3)(q32;p14p24)q44).&"46,XY,inv(1)(inv ins(1;3)(1pter -> 1q32::3p24 -> 3p14::1q44 -> 1q32::1q44 -> 1qter)(3pter -> 3p14::3p24 -> 3qter)."
    Patient was 5 years old with developmental delay.
    Aberration: Complex translocation
    Negative band
  • Wang J C C, Passage M B, Yen P H, Shapiro L J, Mohandas T K: Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier. AJHG 48:1069-1074, 1991. [PMC free article: PMC1683099] [PubMed: 2035528]
    Patient GR.
    45,XX,rob(13q14q).&"Mother-46,XX,t(1;14)(q32;q32)."
    Patient was 9 years old, with MR and MCA. Mother was phenotypically normal.
    Using probes D14S13 and D14S22 the authors were able to show that the patient inherited both chromosomes 14 from her father. They suggest that paternal uniparental heterodisomy for chromosome 14 most likely accounts for the phenotypic abnormalities in the patient. It is suggested that uniparental disomy may be the basis for abnormal development in at least some phenotypically abnormal familial balanced-translocation carriers.
    Aberration: Reciprocal translocation
    Index Terms: Uniparental,Heterodisomy
    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]
    46,XX,t(1;14)(q32;q26.1).
    Aberration: Reciprocal translocation
    Negative band
  • Wirtz A: Personal communication, 1978.
    46,XY,t(1;3;4)(1pter -> 1q32::3p21 -> 3pter;1qter -> 1q32::3p21 -> 3q29::4p14 -> 4pter;4qter -> 4p14::3q29 -> 3qter).
    Aberration: Complex translocation
    Negative band
  • Youings S, Ellis K, Ennis S, Barber J, Jacobs P.: A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities. AJMG DOI=10.1002/ajmg.a.20553; 126A:46-60 , 2003 and 2004. [PubMed: 15039973]
    Lab ID DD 7602135:
    46,XY,t(1;4)(q32;q21).
    Case ascertained because of abnormal phenotype.
    Lab ID DD 7801635, DD 7601827, DD7501249, DD 9304441 and DD 8001080:
    46,XX,t(1;10)(q32;q24)pat.,46,XX,t(1;13)t(q32;q14).,46,XY,t(1;17)(q32;q11).,46,XY,t(1;17)(q32;p13)pat.,46,XY,t(1;18)(q32;q12.2).
    First 3 Cases ascertained because of reproductive difficulties, fourth one due to abnormal phenotype, and 5th is ''miscellaneous''.
    Aberration: Reciprocal translocation
  • Yunis E, Egel H, Zuniga R, Ramirez E, Torres de Caballero O M, Leibovici M: """de novo"" trisomy 1q32 to 1qter and monosomy 3p25 to 3pter." Hum. Genet. 36:113-116, 1977. [PubMed: 858619]
    1 year-old proband with minor abnormalities.
    46,XX,t(1;3)(3qter -> 3p25::1q32 -> 1qter).&Both parents had normal karyotypes.
    Aberration: Simple translocation
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106423
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