01p320

1p32

Publication Details

  • Same entry as in 0Xp22.1 (Waters et al, 2001).

  • Barisic I, Zergollern L, Muzinic D, Hitrec V.: Risk estimates for balanced reciprocal translocation carriers - prenatal diagnosis experience. Clin. Genet. 49:145-151, 1996. [PubMed: 8737980]
    Family No. 3:
    t(1;8)(p32;q24)mat.
    Family ascertained because of a previous infant with MCA but not karyotyped.
    Aberration: Reciprocal translocation
    Index Terms: Risk estimates
    Negative band

  • Batanian J, Hulten M A: "Electron microscopic investigations of synaptonemal complexes in an infertile human male carrier of a pericentric inversion inv(1) (p32;q42). Regular loop formation but defective synapsis including a possible interchromosomal effect." Hum. Genet. 76:81-89, 1987. [PubMed: 3570302]
    46,XY,inv(1)(p32q42).
    Also see report of Gabriel-Robez et al (1994) in Ann. Genet. 37:3-10.
    Aberration: Inversion pericentric
    Index Terms: Synaptonemal complex,Interchromosomal effect
    Negative band

  • Bourrouillou G, Calvas P, Bujan L, Mieusset R, Mansat A, Pontonnier F.: Mitotic chromosomal anomalies among infertile men. Hum. Reprod. 12:2337-2338, 1997. [PubMed: 9402306]
    Bourrouillou G, Dastugue N, Colombies P: Chromosome studies in 952 infertile males with a sperm count below 10 million/ml. Hum. Genet. 71:366-367, 1985. [PubMed: 4077053]
    46,XY,t(1;7)(p32;q32).
    Aberration: Simple translocation
    Index Terms: Sterility ... male
    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. 109
    46,XX,t(1;14)(p32;q32)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Carr D M, 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. 54
    46,XX,t(1;6)(p32;p21)pat.
    Aberration: Reciprocal translocation
    Negative band

  • de la Chapelle A, Miller R C, Greene A E, Coriell L L: "A (1;17) translocation, balanced, plus trisomy 21, 47 chromosomes. Repository identification No. GM-201." Cytogenet. Cell Genet. 14:82-83, 1975. [PubMed: 1132251]
    47,XX,+21,t(1;17)(p32;p13).&"47,XX,+21,t(1;17)(1pter -> 1p32::17p13 -> 17qter;17pter -> 17p13::1p32 -> 1qter)."
    Aberration: Reciprocal translocation
    Index Terms: Down syndrome (Trisomy 21)
    Negative band

  • de Perdigo A, Gabriel-Robez O, Rumpler Y: Correlation between chromosomal breakpoint positions and synaptic behaviour in human males heterozygous for a pericentric inversion. Hum. Genet. 83:274-276, 1989. [PubMed: 2793171]
    Guichaoua M R, Gabriel-Robez O, Ratomponirina C, Delafontaine D, Le Marec B, Taillemite J L, Rumpler Y, Luciani J M: Meiotic behavior of familial pericentric inversions of chromosomes 1 and 9. Ann. Genet. 29:207-214, 1986. [PubMed: 3491577]
    The two inversions were found in two brothers presenting infertility.
    46,XY,inv(1)(p32q21).&46,XY,inv(9)(p11q12).
    Patient was studied for sterility.
    It is hypothesized that loops are formed only when the breakpoints are in the G-light bands with the genetic consequences of crossing-over and the production of unbalanced gametes.
    Aberration: Inversion pericentric
    Index Terms: Sterility ... male,Synapsis
    Negative band

  • de Perdigo A, Gabriel-Robez O, Rumpler Y: Correlation between chromosomal breakpoint positions and synaptic behaviour in human males heterozygous for a pericentric inversion. Hum. Genet. 83:274-276, 1989. [PubMed: 2793171]
    Case 3 of Batanian and Hulten (1987) published in Hum. Genet. 76:81-86, 1987.
    46,XY,inv(1)(p32q42).
    Patient was studied because of primary infertility.
    Aberration: Inversion pericentric
    Negative band

  • Estop A M, Bansal V, Lin A, Levinson F, Karlin S M, Surti U, Wenger S L, Steele M W: Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes. AJMG 49:410-413, 1994. [PubMed: 8160735]
    Case 1:
    46,XY,der inv(1)(p32p36.1)mat.
    Both have mild MR, dysmorphology and accelerated growth.
    Case from Dr. Estop''s institution.
    Aberration: Inversion paracentric
    Negative band

  • FitzSimmons J, Wapner R J, Jackson L G: Repeated pregnancy loss. AJMG 16:7-13, 1983. [PubMed: 6638072]
    46,XX,t(1;7)(p32;p13).
    Aberration: Simple translocation
    Negative band

  • Francke U, Pellegrino M A: Assignment of the major histocompatibility complex to a region of the short arm of human chromosome 6. PNAS 74:1147-1151, 1977. [PMC free article: PMC430627] [PubMed: 265561]
    46,XY,t(1;6)(p32;p21).&"46,XY,t(1;6)(1qter -> 1p32::6p21 -> 6pter;6qter -> 6p21::1p32 -> 1pter)."
    Aberration: Reciprocal translocation
    Negative band

  • Fryns J P, Kleczkowska A, Kubien E, Van den Berghe H: Cytogenetic findings in moderate and severe mental retardation. A study of an institutionalized population of 1991 patients. Acta Paed. Scand. Suppl. 313:1-23, 1984. [PubMed: 6241420]
    46,XX,t(1;5)(p32;p15)mat, (1qh+)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Gabriel-Robez O, Ratomponirina C, Rumpler Y, Le Marec B, Luciani J M, Guichaoua M R: Synapsis and synaptic adjustment in an infertile human male heterozygous for a pericentric inversion in chromosome 1. Hum. Genet. 72:148-152, 1986. [PubMed: 3943869]
    Gabriel-Robez O, Rumpler Y: The meiotic pairing behaviour in human spermatocytes carrier of chromosome anomalies and their repercussions on reproductive fitness I: inversions and insertions. A European collaborative study. Ann. Genet. 37:3-10, 1994. [PubMed: 8010710]
    Patient was 36 years old.
    46,XY,inv(1)(p32q12),16qh+.
    Aberration: Inversion pericentric
    Index Terms: Sterility ... male
    Negative band

  • Garver K L, Ciocco A M, Turack N A: Partial monosomy or trisomy resulting from crossing over within a rearranged chromosome 1. Clin. Genet. 10:319-324, 1976. [PubMed: 991441]
    Pan S F, Fatora S R, Sorg R, Garver K L, Steele M W: Meiotic consequences of an intrachromosomal insertion of chromosome No. 1: a family pedigree. Clin. Genet. 12:303-313, 1977. [PubMed: 589852]
    Individual I-2 in the pedigree.
    46,XX,ins(1)(p32q25q32).&46,XX,ins(1)(pter -> p32::q32 -> q25::p32 -> q25::q32 -> qter).
    Individual II-2 in the pedigree.
    46,XX,der ins(1)(p32q25q32)mat.
    Individual III-1 in the pedigree.
    46,XX,rec(1)dup(q25q32)mat.
    Individuals III-2 and III-3 in the pedigree.
    46,XX,rec(1)del(q25q32)mat.
    Patient is trisomic for segment 1q25 to 1q32 and at age 2-2/3 years had macrocephaly, epicanthal folds, depressed nasal bridge and had started kindergarten at age 4-1/2 years.
    Patients were monosomic for 1q25 to 1q32.
    III-3 died at 4-1/2 months. Both were poorly developed and had various anomalies.
    Aberration: IN,RE
    Index Terms: Epicanthal folds,Macrocephaly
    Negative band

  • Gil R, Lopez-Gines C, Gregori-Romero M, Sanchez M D, Pellin A: "Reciprocal translocation t(1;18)(p32;q21) in a patient with some phenotypical anomalies." Hum. Genet. 77:384, 1987. [PubMed: 3692481]
    Patient was 7 years old. She had scanty scalp hair, absence of eyebrows and eyelashes.
    46,XX,t(1;18)(p32;q21).
    Aberration: Reciprocal translocation
    Index Terms: Eyebrow ... absent,Eye-lashes ... absent,Scalp defects
    Negative band

  • Handelsman D J, Smith A: "Familial hypogonadism with a balanced reciprocal 1;12 translocation." J. Med. Genet. 20:478, 1983. [PMC free article: PMC1049192] [PubMed: 6655681]
    46,XY,t(1;12)(p32;q24).&"Three brothers had the same karyotype; two had hypogonadism and were sterile; parents were not available for karyotyping."
    Aberration: Reciprocal translocation
    Index Terms: Gonadal dysgenesis ... hypogonadism,Hypogonadism,Sterility ... male
    Negative band

  • Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points of structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]
    Tierney I, Axworthy D, Smith L, Ratcliffe S G: Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population. J. Med. Genet. 21:45-51, 1984. [PMC free article: PMC1049205] [PubMed: 6694184]
    M. R. C. Registry No. K118-119-68 in this report.
    46,XY,t(1;16)(p32;q24).
    M. R. C. Registry No. K180-48-68 in this report.
    46,XX,t(1;3)(3;9)(p32;p25 or 26 or 27)(q21;q22).
    M. R. C. Registry No. K212-171-72 in this report.
    46,XX,inv(1)(p32q42).&46,XX,inv(1)(pter -> p32::q42 -> p32::q42 -> qter).
    M. R. C. Registry No. K42-352-67 in this report.
    46,XY,t(1;16)(p32;q22).
    Aberration: ST,CT,PI
    Negative band

  • Joyce C A, Cabral de Almeida J C, Santa Rose A A, Correia P, Moraes L, Bastos E, Llerena J, Jr.: A de novo complex chromosomal rearrangement with nine breakpoints characterised by FISH in a boy with mild mental retardation, developmental delay, short stature and microcephaly. Clin. Genet. 56:86-92, 1999. [PubMed: 10466423]
    FB was 9 years old and evaluated for learning difficulties and short stature.
    46,X,rea(Y;1;6;7)(Ypter->Yq12::7p22->7pter;1pter->1p36.1::1p32->1qter;6pter->6q21::7qter->7p22::1p32->1p34::6q21->6q23::1p34->1p36.1::6q23->6qter,inv(15)(q13q26.1)denovo.ish rea(Y;1;6;7)(cy2.1-109A6+;wcp1+,D1Z2+;wcp6+,D6S152-,2158e3-;wcp7+,109A6-,wcp1+,wcp6+,D6S152+,wcp1+,wcp6+,2158e3+),inv(15)(wcp15+,SNRPNst,PMLmv).
    Aberration: Complex translocation

  • Leonard N J, Tomkins D J.: Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry. AJMG DOI=10.1002/ajmg.10662; 112:86-90, 2002. [PubMed: 12239727]
    Newborn blood=46,XX[30].,Age 17, fibroblasts (hypopigmented area),=4n[3]/46,XX,t(1;6)(p32;q13)[2]/46,XX[14].,Fibroblasts, (pigmented area)=46,XX[20].
    The patient was 17 years old with developmental delay.
    Aberration: Reciprocal translocation
    MIM#: 146150

  • Lindenbaum R H, Hulten M A, McDermott A, Seabright M: The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect? J. Med. Genet. 22:24-28, 1985. [PMC free article: PMC1049372] [PubMed: 3156995]
    Case 9.
    t(1;20)(p32;q12.2)mat.
    Aberration: Reciprocal translocation
    Index Terms: Down syndrome (Trisomy 21)
    Negative band

  • Marsh W L, Chaganti R S K, Gardner F H, Mayer K, Nowell P C, German J: Mapping human autosomes: Evidence supporting assignment of Rhesus to the short arm of chromosome No. 1. Science 183:966-968, 1974. [PubMed: 4204206]
    See 04q310, 07q110 and 07q320, del(1)(qter -> p33:).
    Aberration: CT,TD
    Negative band

  • Montag M, van der Ven K, Ved S, Schmutzler A, Prietl G, Krebs D, Peschka B, Schwanitz G, Albers P, Haidl G, van der Ven H.: Success of intracytoplasmic sperm injection in couples with male and/or female chromosome aberrations. Hum. Reprod. 12:2635-2640, 1997. [PubMed: 9455827]
    van der Ven K, Peschka B, Montag M, Lange R, Schwanitz G, van der Ven H H.: Increased frequency of congenital chromosomal aberrations in female partners of couples undergoing intracytoplasmic sperm injection. Hum. Reprod. 13:48-54, 1998. [PubMed: 9512227]
    Patient C96/189 was 38 years old.
    46,XY,t(1;5)(p32;q31)
    Aberration: Reciprocal translocation
    Index Terms: ICSI

  • Neu R L, Miller 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. 115, 116, and 117.
    46,XX and XY,t(1;15)(p32;q22)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter N P.: Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J. Med. Genet. 41:241-248, 2004. [PMC free article: PMC1735726] [PubMed: 15060094]
    Case 10:
    46,XY,t(1;5)(p32;q15)de novo,der del(13)(q33.3->34)mat.
    The 13 year old had microcephaly, learning disability, dysmorphic facial features, and a kyphoscoliosis. The mother was phenotypically normal.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 13q-
    Index Terms: Array-CGH

  • Simopoulou M, Harper J C, Fragouli E, Mantzouratou A, Speyer B E, Serhal P, Ranieri D M, Doshi A, Henderson J, Rodeck C H, Delhanty J D A.: Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples with chromosomal rearrangements. Prenat. Diag 23:652-662, 2003. [PubMed: 12913872]
    Case H=46,XY,t(1;18)(p32;q23).
    Balanced embryo frozen as blastocyst; no pregnancy.
    Aberration: Reciprocal translocation
    Index Terms: PGD

  • Slater H R, Nouri S, Earle E, Lo W I, Lyndon G, Choo K H A.: Neocentromere formation in a stable ring 1p32-p36.1 chromosome. J. Med. Genet. 36:914-918, 1999. [PMC free article: PMC1734276] [PubMed: 10593999]
    Lymphocyte=47,XY,del(1)(p32p36.1)+r(1)(p32p36.1)denovo.,Fibroblasts=47,Y,t(X;4)(q23;q13),del(1)(p32p36.1)+r(1)(p32p36.1)[60]/46,XY,del(1)(p32p36.1)+r(1)(p32p36.1)[40].
    The patient was 38 years old with infertility and oligospermia.
    Neocentromere activity was defined by CENP-A, CENP-C, CENP-E, and CENP-F binding.
    Aberration: ST,RI,ID
    Index Terms: Neocentromere

  • Tegenkamp T R, Neri A S, Atkinson A, Labidi F: "Prenatal detection of a familial t(1;7)(p32;p13) translocation transmitted in a pregnancy occuring after administration of clomiphene and conjugated estrogens." Am. J. Obst. Gynecol. 131:815-816, 1978. [PubMed: 210670]
    46,XX,t(1;7)(p32;p13).&"46,XY,t(1;7)(p32;p13)mat."
    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. 133.
    46,XY,t(1;17)(p32;p11).
    Aberration: Reciprocal translocation
    Negative band

  • van der Ven K, Montag M, Peschka B, Leygraaf J, Schwanitz G, Haidl G, Krebs D, van der Ven H.: Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection. Mol. Hum. Reprod. 3:699-704, 1997. [PubMed: 9294854]
    46,XY,t(1;5)(p32;q31)
    The patient was evaluated because of low sperm count.
    Aberration: Reciprocal translocation

  • 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;12)(p32;q12).
    46,XY,t(1;15)(p32;q26.1).
    Aberration: Reciprocal 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 DD7601349:
    46,XX,t(1;16)(p32;q22).
    Case ascertained because of reproductive difficulties.
    Aberration: Reciprocal translocation