01p363

1p36.3

Publication Details

  • Angle B, Yen F, Hersh J H, Gowans G, Barch M.: Partial duplication 4q and deletion 1p36 in monozygotic twins with discordant twins. AJMG DOI=10.1002/ajmg.10599; 111:307-312, 2002. [PubMed: 12210328]
    46,XY,der(1)t(1;4)(p36.3;q25)de novo.
    The MZ twins had dysmorphic features but were discordant for a number of congenital anomalies.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 1p-;4q+

  • Barros A, Carmo Tavares M, Paula Gomes M, Purificacao Tavares M: Familial inv(1)(p36.3q12) associated with sterility. J. Med. Genet. 23:90-91, 1986. [PMC free article: PMC1049552] [PubMed: 3950943]
    Barros A, Tavares M C, Gomes M P, Tavares M P: Pericentric inversion and sterility. J. Med. Genet. 24:510, 1987. [PMC free article: PMC1050215] [PubMed: 3656377]
    In the second report, another brother was shown to have the same inversion and has severe oligospermia (about 200, 000 per ml).
    Mother and two of her sons were carriers of the inversion.
    The susceptibility of spermatogenesis is attributed to the structural chromosome aberration.
    46,XX,inv(1)(p36.3q12).&46,XY,inv(1)(p36.3q12)mat.
    Aberration: Inversion pericentric
    Index Terms: Oligospermia,Oligozoospermia,Sterility
    Negative band

  • Barton D E.: Erroneous Title. J. Med. Genet. e Letter May 1, 2002, 2002.
    Cox H, Lucassen A, Rio M, Browne C, Renforth G, Craven L, Salmon T, Wilson D I.: Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings. Clin. Dysmorphol DOI=10.1097/MCD.0b013e3283202a1f, 2009. [PubMed: 19077675]
    Redon R, Rio M, Gregory S G, Cooper R A, Fiegler H, Sanlaville D, Banerjee R, Scott C, Carr P, Langford C, Cormier-Daire V, Munnich A, Carter N P, Colleaux L.: Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome? J. Med. Genet. 42:166-171, 2005. [PMC free article: PMC1735995] [PubMed: 15689456]
    Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire V, Amiel J, Lyonnet S, Le Merrer M, Turleau C, de Blois M-C, Prieur M, Romana S, Vekemans M, Munnich A, Colleaux L.: Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. J. Med. Genet. 39:266-270, 2002. [PMC free article: PMC1735076] [PubMed: 11950856]
    In the 2005 report, 6 patients were studied, and these authors suggest that the monosomy 1p36 syndrome may be due to a positional effect of the 1p36 rearrangement rather than haploinsufficiency of contiguous genes in the deleted region.
    46,XY,del(1)(p36.3)de novo, paternal origin. 7-15Mb.,46,XX,del(1)(p36.3)de novo maternal origin. 7-15Mb.,46,XX,del(1)(p36.3)de novo paternal origin. 4.6-7 Mb.
    MCA were also found.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 1p-

  • Breen C J, Barton L, Carey A, Dunlop A, Gkancy M, Hall K, Hegarty A M, Khokhar M T, Power M, Ryan K, Green A J, Stallings R L.: Applications of comparative genomic hybridisation in constitutional chromosome studies. J. Med. Genet. 36:511-517, 1999. [PMC free article: PMC1734415] [PubMed: 10424810]
    Case No. 17:
    46,XX,del(1)(p36.3),dim(1)(p36.3),wcp1+;D1S1615-
    The case was studied because of developmental delay and dysmorphic features.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 1p-

  • Cavani S, Perfumo C, Faravelli F, Malacarne M, Sogliani M, Piombo G, Zerega G, Zucca M, Bricarelli F D, Pierluigi M.: Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations. Prenat. Diag. 23:819-823, 2003. [PubMed: 14558026]
    Foetuses III,3-5-6=46,XY or XX,der(1)t(1;6)(p36.3;q25.2)mat.,III,2=46,XX,der(6)t(1;6)(p36.3;q25.2)pat.,I,2;II,3;II,6;II,8; III,4=,46,XX or XY,t(1;6)(p36.3;q25.2).
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1p-;6q+

  • 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. 1168.
    46,XY,inv(1)(p363q42)mat.
    Aberration: Inversion pericentric
    Negative band

  • Cutenese C L, Hummel M, Mullett S L, Wenger S L.: Ring chromosome 1 in newborn. AJHG 61:A121, 1997.
    46,XX,r(1)(p36.3q44)
    The infant had a two-vessel umbilical cord, small palpebral fissures, absent corpus callosum, dysplastic kidneys, ASD/PDA, and bilateral fifth digit clinodactyly.
    The event of r(1) formation is likely to be post-zygotic.
    Aberration: Ring chromosome
    No band

  • Daniel A, Baker E, Chia N, Haan E, Malafiej P, Hinton L, Clarke N, Ades L, Darmanian A, Callen D.: Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: A cause of minute terminal chromosomal imbalances. AJMG DOI=10.1002/ajmg.a.10048, 2002. [PubMed: 12548741]
    Case 1=46,XY,dup(1p)del(1q-)(PAC230K6++,PAC160H23-).
    Case was detected in a survey of idiopathic MR patients.
    The 1p signal (PAC230K6) was also present at the 1q with an absence of signal for PAC160H23. A new term has been coined to describe this phenomenon -Intrachromosomal transpositions of subtelomeres). I have coded this as a case of insertion!
    Aberration: Direct insertions within a chromosome
    Chromosomal Aneuploidy: 1p+;1q-
    Index Terms: Intrachromosomal transpositions of subtelomeres

  • de Vries B B A, White S M, Knight S J L, Regan R, Homfray T, Young I D, Super M, McKeown C, Splitt M, Quarrell O W J, Trainer A H, Niermeijer M F, Malcolm S, Flint J, Hurst J A, Winter R M.: Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J. Med. Genet. 38:145-150, 2001. [PMC free article: PMC1734836] [PubMed: 11238680]
    Koolen D A, Nillesen W M, Versteeg M H A, Merkx G F M, Knoers N V A M, Kets M, Vremeer S, van Ravenswaaij C M A, de Kovel C G, Brunner H G, Smeets D.: Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J. Med. Genet. 41:892-899, 2004. [PMC free article: PMC1735655] [PubMed: 15591274]
    46,XX,del(1)(p36.3)de novo.,46,XY,del(1)(p36.3).,46,XX or Y,der(1)t(1;19)(p36.3;q13.4).,Cases 1 and 2 (in 2004 paper)=del(1)(pter).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 1p-
    Index Terms: Multiplex ligation dependent probe amplification (MLPA)
    No band

  • De Vries B B A, Winter R, Schinzel A, van Ravenswaaij-Arts C.: Telomeres: a diagnosis at the end of the chromosomes. J. Med. Genet. 40:385-398, 2003. [PMC free article: PMC1735506] [PubMed: 12807958]
    De Vries et al (2003) review the data on subtelomeric deletion syndromes quite extensively.

    Fauth C, Zhang H, Harabacz S, Brown J, Saracoglu K, Lederer G, Rittinger O, Rost I, Eils R, Kearney L, Speicher M R.: A new strategy for the detection of subtelomeric rearrangements. Hum. Genet. 109:576-583, 2001. [PubMed: 11810269]
    Giraudeau F, Aubert D, Young I, Horsley S, Knight S, Kearney L, Vergnaud G, Flint J.: Molecular-cytogenetic detection of a deletion of 1p36.3. J. Med. Genet. 34:314-317, 1997. [PMC free article: PMC1050919] [PubMed: 9138156]
    Giraudeau F, Taine L, Biancalana V, Delobel B, Journel H.: Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation. J. Med. Genet. 38:121-125, 2001. [PMC free article: PMC1734816] [PubMed: 11288712]
    Knight-Jones E, Knight S, Heussler H, Regan R, Flint J, Martin K.: Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3. Develop. Med. Child Neurol. 42:201-206, 2000. [PubMed: 10755460]
    Knight S J L, Regan R, Nicod A, Horsley S W, Kearney L, Homfray T, Winter R M, Bolton P, Flint J.: Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354:1676-1681, 1999. [PubMed: 10568569]
    7.4% of children with moderate to severe MR and 0.5% of children with mild retardation were found to have these rearrangements. The estimated population prevalence of these rearrangements was 2.1/10,000 and they were familial in almost half the cases.

    Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, Kingston H, Campbell R H A, Flint J, Donnai D, Biesecker L.: Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J. Med. Genet. 36:405-411, 1999. [PMC free article: PMC1734367] [PubMed: 10353788]
    46,XX or XY,del(1)(p36.3)
    Knight-Jones et al present data on four patients, including one reported by Giraudeaux et al, with severe learning disability (SLD) and dysmorphic features.
    46,XX,der(1)t(1;19)(p36.3;q13.4)pat.
    The patient was 16 years old with moderate MR. The phenotype included conductive hearing loss, short stature, and coarse tremor.
    46,XY,del(1)(p36.3)
    The patient is 16 years old with broad forehead, deep set eyes, and skeletal anomalies.
    The deletion is about 5-7 Mb.
    Family 5 :
    46,XX,del(1)(p36.3).ish breakpoint between D1S2870 and D1S165.
    IUGR was detected at 38 weeks of gestation. At 6 years, the child shows multiple anomalies including, plagiocephaly and facial asymmetry.
    The deletion was found to be maternal in origin and about 16.4-22.9cM.
    Aberration: ID,RT
    Chromosomal Aneuploidy: 1p-;19q+

  • Duba H C, Erdel M, Loffler J, Bereuther L, Fischer H, Utermann B, Utermann G.: Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome. J. Med. Genet. 34:309-313, 1997. [PMC free article: PMC1050918] [PubMed: 9138155]
    46,XY,inv ins dup(1)(p36.3qter-q32)de novo
    The 18 month old boy had microcephaly, bilateral cleft lip and palate, low set and dysmorphic ears, brain anomalies, pulmonary stenosis, duodenal obstruction, dysplastic kidneys, and bifid thumbs.
    Aberration: II,DU
    Chromosomal Aneuploidy: 1q+

  • Faivre L, Morichon-Delvallez N, Viot G, Martinovic J, Pinson M P, Aubry J P, Raclin V, Edery P, Dumez Y, Munnich A, Vekemans M.: Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature. Prenat. Diag. 19:49-53, 1999. [PubMed: 10073907]
    Case ascertained because of abnormal ultrasound at 24 weeks.
    46,XY,del(1)(p36.3)de novo and of paternal origin.
    The pregnancy was terminated after genetic counseling and hydrops fetalis due to cardiac failure at 28 weeks.
    Aberration: Terminal deletion

  • Flint J, Craddock C F, Villegas A, Bentley D P, Williams H J, Galanello R, Cao R, Wood W g, Ayyub H, Higgs D R.: Healing of broken human chromosomes by the addition of telomeric repeats. AJHG 55:505-512, 1994. [PMC free article: PMC1918405] [PubMed: 7521575]
    Lamb J, Harris P C, Wilkie A O M, Wood W G, Dauwerse J H G, Higgs D R: De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/Mental retardation syndrome (ATR-16). AJHG 52:668-676, 1993. [PMC free article: PMC1682074] [PubMed: 8460633]
    Lamb J, Wilkie A O M, Harris P C, Buckle V J, Lindenbaum R H, Barton N J, Reeders S T, Weatherall D J, Higgs D R: Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease. Lancet ii:819-824, 1989. [PubMed: 2477654]
    46,XX,t(1;16)(p36.3;p13.3).,46,XY,-16,+der(16)t(1;16)(16qter->16p13.3::1p36.3->1pter)mat.,46,XX,-1,+der(1)t(1;16)(1qter->1p36.3::16p13.3->16pter)mat.
    The 3 year-old boy presented with alpha-thalasemia, dysmorphic features, and mental retardation. The younger sister has mental retardation but is hematologically normal.
    An elegant piece of work demonstrating that such invisible chromosomal rearrangements are probably an important and hitherto unrecognised cause of genetic disease. It has been shown that the clinical features of the patient with ATR-16 appear to be due to monosomy for the terminal portion of 16p13.3. The telomeric sequence (TTAGGG)n has been added.
    Aberration: Reciprocal translocation
    MIM#: 141800
    Chromosomal Aneuploidy: 1p+,16p-,16p+,1p-
    Index Terms: Telomer,Thalassemia/MR
    Negative band

  • Gajecka M, Pavlicek A, Glotzbach C D, Ballif B C, Jarmuz M, Jurka J, Shaffer L G.: Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations. Hum. Genet. DOI=10.1007/s00439-006-0222-1; 120: 519-526, 2006. [PubMed: 16847692]
    t(1;9)(p36.3;q34).
    These authors propose a model for balanced translocation formation in humans similar to transposition in bacteria, in which staggered nicks are repaired resulting in duplications and insertions at the translocation breakpoints. They found translin motifs at the breakpoint junctions, suggesting the involvement of translin in the joining of the broken chromosome ends. Two of three translocations demonstrated insertions and duplications at the junctions, suggesting NHEJ in the formation of the rearrangements. No homology identified at the breakpoint regions, thus supporting NHEJ.
    Aberration: Simple translocation
    Index Terms: Nonhomologous end joining (NHEJ)

  • Goswami H K, Ragnekar G V, Varshney S, Gandhi P, Jain B, Joshi A.: Crossed renal ectopia with pelvic lipomatosis: a new syndrome involving chromosome 1. Hum. Genet. 89:666-670, 1992. [PubMed: 1511984]
    Rivera H.: Cytogenetic findings in crossed renal ectopia with pelvic lipomatosis. Hum. Genet. 92:210, 1993. [PubMed: 8370589]
    mos46,XY,t(1;6)(pter;pter)[35%]/46,XY,t(1;8)(pter;pter)[2%]/,46,X,del(Y)[25%]/46,XY,1marker dot[20%]/46,XY[63%].
    The patient was 18 years old with both kidneys on one side (crossed renal ectopia), together with pelvic lipomatosis.
    Aberration: Whole-arm translocations
    MIM#: 169545
    Index Terms: Pelvic lipomatosis,Crossed renal ectopia

  • Heilstedt H A, Shapira S K, Gregg A R, Shaffer L G.: Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis. Clin. Genet. 56:123-128, 1999. [PubMed: 10517248]
    46,XX,dir dup(1)(p36.3->pter)de novo
    The patient was 32 months old and presented with metopic stenosis, rectal stenosis, atrial septal defect, and mildly delayed gross motor development.
    Aberration: Duplication
    Chromosomal Aneuploidy: 1p+
    Index Terms: Metopic synostosis

  • Hiraki Y, Fujita H, Yamamori S, Ohashi H, Eguchi M, Harada N, Mizuguchi T, Matsumoto N.: Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1). AJMG Part A: 140A: 1773-1777, 2006. [PubMed: 16835918]
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1p-; 1p+
    Index Terms: Craniosynostosis

  • 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 Ib-1 from Magenis, E.
    mos46,XY/46,XY,-1,+der(1)t(1;7)(p36.3;q11)(82.8%).
    Abnormal male liveborn with low-set abnormal ears, imperforate anus, dysmorphism, and mental retardation.
    Mosaicism confirmed in blood, 3% abnormal cells.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1p-;7q+
    Negative band

  • Hulley B J, Hummel M, Wenger S L.: Screening for cryptic chromosomal abnormalities in patients with mental retardation and dysmorphic facial features using telomere fish probes. AJMG DOI=10.1002/ajmg,10925; 117A:302-303, 2003. [PubMed: 12599198]
    del(1)(p36.3)de novo.,der(1)t(1;8)(p36.3;p23)pat.
    17 patients with MR or developmental delay and dysmorphic facial features were screened. 13 cases were studied with FISH telomere probes.
    In the first case, the 1p deletion was confirmed using p 58 (Oncor, Gaithersburg, MD). ,In the second case, 1p telomere was intact. The 8p telomere probe signal showed a split signal between 1p and 8p in both the patient and father, considered a polymorphism.
    Aberration: TD,MA
    Chromosomal Aneuploidy: 1p-

  • Hussain S Z, Evans A L, Ahmed O A, Jones D, McDermot K D, Svennevik E C, Hastings R J.: Non-syndromic mental retardation segregating with an apparently balanced t(1;17) reciprocal translocation through three generations. AJMG 95:99-104, 2000. [PubMed: 11078557]
    46,XX and XY,t(1;17)(p36.3;p11.2).ish t(1;17)(p5154+,YAC125+,YAC117+,YAC18A9+,RARA+,D1Z2+).
    The translocation was present in 8 individuals through 3 generations.
    Aberration: Reciprocal translocation
    No band

  • Ida T, Harada N, Abe K, Kondoh T, Yoshinaga M, Maki T, Niikawa N.: Identification of de novo chromosome rearrangements: five cases analyzed with differential chromosome painting. AJMG DOI=10.1002/ajmg.10257;108:182-186, 2002. [PubMed: 11891682]
    Case 1=46,XY.add(1)(p36.3).ish der(1)t(1;1)(qter->q42.1::p36.3->qter)(wcp1+,Tel1q++).,46,XY,der(1)(qter->q42.1::p36.3->qter).
    Patient was one year old with MR and dysmorphic features.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 1p+

  • Jalal S M, Law M E, Christensen E R, Spurbeck J L, Dewald G W: Method for sequential staining of GTL-banded metaphases with fluorescent-labeled chromosome specific paint probes. AJMG 46:98-103, 1993. [PubMed: 8494038]
    Case 1:
    46,XX,t(1;7)(p36.3;q22)-mother.&"46,XX,-1,+der(1)t(1;7)(1qter -> 1p36.3::7q22 -> 7qter)mat."
    Karyotyping the fetus was done because of hydrocephalus.
    Chromosome specific paint for 7 was used to show the two normal 7s and the translocated segment.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 7q+,1p-
    Index Terms: Chromosome specific paints CSP
    Negative band

  • Kalousek D 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 No. 55
    46,XX,t(1;6)(p36.3;p23)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Karna P, Kapur S. : Diphallus and associated anomalies with balanced autosomal chromosomal translocation. Clin. Genet. 46:209-211, 1994. [PubMed: 7820932]
    Patient died on the 8th day of life.
    46,XY,t(1;14)(p36.3;q24.3).
    Aberration: Simple translocation
    Index Terms: Diphallus
    Negative band

  • Kulharya A S, Carlin M E, Stettler R W, Huslig M, Kukolich M K, Garcia-Heras J.: Prenatal diagnosis of a de novo trisomy 6q22.2->6qter and monosomy 1pter->1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q. Clin. Genet. 51:115-117 and 52:251, 1997. [PubMed: 9111999]
    46,XY,der(1)t(1;6)(1qter->1p36.3::6q22->6qter)de novo
    The infant, had MCA, and died at the age of 23 months after surgery.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 1p-;6q+

  • Lim C K, Jun J H, Min D M, Lee H-S, Kim J Y, Koong M K, Kang I S.: Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and Robertsonian translocations: the Korean experience. Prenat. Diag. 24:556-561, 2004. [PubMed: 15300749]
    Case B4 (2/0/2)=46,XY,t(1;11)(p36.3;q13).
    Aberration: Reciprocal translocation
    Index Terms: PGD,Korea(n)

  • Machlitt A, Kuepferling P, Bommer C, Koerner H, Chaoui R.: Prenatal diagnosis of trisomy 1q21-qter: case report and review of literature. AJMG DOI=10.1002/ajmg.a.30588; 134A:207-211, 2005. [PubMed: 15704122]
    Machlitt A, Kuepferling P, Bommer C, Koerner H, Chaoui R.: Prenatal diagnosis of trisomy 1q21-qter: case report and review of literature. AJMG DOI=10.1002/ajmg.a.30588, 2005. [PubMed: 15704122]
    Machlitt A, Kuepferling P, Bommer C, Koerner H, Chaoui R.: Prenatal diagnosis of trisomy 1q21-qter: case report and review of literature. AJMG DOI=10.1002/ajmg.a.30588, 2005. [PubMed: 15704122]
    46,XY,der(1)(1qter->1q21::1p36.3->1qter)de novo
    Pregnancy terminated and autopsy confirmed the MCA seen on ultrasound.
    Aberration: Duplication
    Chromosomal Aneuploidy: 1q+

  • Okamoto N, Toribe Y, Nakajima T, Okinaga T, Kurosawa K, Nonaka I, Shimokawa O, Matsumoto N.: A girl with 1p36 deletion syndrome and congenital disproportion myopathy. J. Hum. Genet. 47:556-559, 2002. [PubMed: 12376748]
    46,XX.ish del(1)(p36.3->pter)(D1Z2-,SKI-)de novo.
    The patient was 4 years old. She had abnormal ocular movement with vertical nystagmus, several dysmorphic features, and reportedly first case with 1p36 deletion and congenital fiber type disproportion myopathy (CFTD).
    Aberration: Terminal deletion
    MIM#: 255310
    Chromosomal Aneuploidy: 1p-
    Index Terms: Congenital fiber disproportion myopathy (CFTD)

  • Park V M, Gustashaw K M, Wathen T M: The presence of interstitial telomeric sequences in constitutional chromosome abnormalities. AJHG 50:914-923, 1992. [PMC free article: PMC1682611] [PubMed: 1570843]
    Case 9:
    46,XY,-11,+der(11)t(11;16)(q25;p12.2)mat,t(1;11)(p36.3;q1 3.1)pat.
    The child has MCA.
    Aberration: Simple translocation
    Index Terms: Telomeric sequences ... interstitial
    Negative band

  • Reddy K S, Yang X.: Submicroscopic terminal deletion of 1p36.3 and Xp23 hidden in complex chromosome rearrangements: independent mechanism of telomere restitution on the two chromatids. AJMG 117A:261-267, 2003. [PubMed: 12599190]
    Case 1=46,XX,der(1)t(1;9)(p36.3;p13).ish der(1)(wcp9+)[88]/46,XX[12].,46,XX,der(1)t(1;9)(p36.3;p13).ish der(1)(wcp9+,1ptel-,9ptel+,pan tel+)[88]/46,XX.ish del(1)(1ptel-,9ptel-,pan tel+)[12].
    The 15 year old has slightly dysmorphic features and delayed development. Ultrasound studies showed hydrocephalus and IUGR at 30 weeks of gestation.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 9p+;

  • Reish O, Berry S A, Hirsch B.: Partial monosomy of chromosome 1p36.3: characterization of the critical region and delineation of a syndrome. AJMG 59: 467-475, 1995. [PubMed: 8585567]
    Patient 3:
    46,XX,del(1)(p36.32)de novo.
    The patient was evaluated at 47 years of age.
    D1Z2 oncor probe showed only one signal.
    Patient 4:
    46,XX,-1,+?der(1)t(1;?)(p36.31;?).
    The patient was referred at 6 years of age.
    Patient 5:
    45,XY,-1,-13,+der(13)t(1;13)(1qter->1p36.33::13q12.1->13pter).
    The patient was referred at the age of 3 years.
    Patients 1 and 2:
    46,XY,t(1;19)(p36.31;q13.42).,46,XX,-1,+der(1)t(1;19)(1qter->1p36.31::19q13.42)pat.
    The patient was evaluated at 5 years of age. Her paternal aunt (ie Patient 2) had the same karyotype. The phenotype of this syndrome appears to include microcephaly, MR, prominent forehead, deep-set eyes, depressed nasal bridge, flat midface, relative prognathism, abnormal ears, small hands and feet, and self-abusive behavior.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1p-
    Negative band

  • Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A.: Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Hum. Genet. 109:286-294, 2001. [PubMed: 11702209]
    Riegel M, Castellan C, Balmer D, Brecevic L, Schinzel A.: Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes. AJMG 82:249-253, 1999. [PubMed: 10215549]
    46,XX,del(1)(p36.3)de novo
    The proposita was 4 years old with minor anomalies of face and distallimbs, patent ductus arteriosus, the Ebstein heart anomaly, and brain atrophy with seizures.
    FISH with telomere probes detected the terminal deletion and such approach is strongly recommended.
    Case 7 (in 2001 report)=46,XX,del(1)(p36.3).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 1p-

  • Roberts A E, Cox G F, Kimonis V, Lamb A, Irons M.: Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. AJMG 128A:352-363, 2004. [PubMed: 15264280]
    Patient 1=46,XX. ish del(1)(p36.3p36.3)(pcplp-)de novo.,Patient 2=46,XX.ish del(1)(p36)de novo.,Patient 3=46,XY.ish der(1)t(1;4)(p36.3;p16),(1pSUBTEL-,p58-,D1Z2-,D4S3359+,WHSC1+).
    Aberration: ID,RT
    Chromosomal Aneuploidy: 1p-

  • Saito S, Kawamura R, Kosho T, Shimizu T, Aoyama K, Koike K, Wada T, Matsumoto N, Kato M, Wakui K, Fukushima Y.: Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36. AJMG Part A: 146A: 2891-2897, 2008. [PubMed: 18925681]
    46,XX,del(1)(p36.3)dn
    The infant expired at the age of 48 days with sudden cardiopulmonary arrest after feeding.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 1p-
    Index Terms: Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, left ventricular noncompaction

  • Schwartz S, Palmer C G: Chromosomal findings in 164 couples with repeated spontaneous abortions: with special consideration to prior reproductive history. Hum. Genet. 63:28-34, 1983. [PubMed: 6832778]
    46,XY,rcp(1;16)(p36.3;p13.1).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band

  • Shields L E, Serafini P C, Schenken R S, Moore C M: Chromosomal analysis of pregnancy losses in patients undergoing assisted reproduction. J. Assist. Reprod. Genet. 9:57-60, 1992. [PubMed: 1617252]
    Case 9:
    mos46,XX/46,XX,inv(1)(p36.3q42),inv(6)(p21.3q21).
    Aberration: Inversion pericentric
    Index Terms: Assisted reproduction
    Negative band

  • Spriggs E L, Martin R H: Analysis of segregation in a human male reciprocal translocation carrier, t(1;11)(p36.3;q13.1), by two-colour fluorescence in situ hybridization, Mol. Reprod. Develop. 38:247-250, 1994. [PubMed: 7917274]
    Spriggs E L, Martin R H, Hulten M A: Sperm chromosome complements from two human reciprocal translocation heterozygotes. Hum. Genet. 88:447-452, 1992. [PubMed: 1740322]
    46,XY,t(1;11)(p36.3;q13.1).
    The 29 year old was ascertained fortuitously during sperm screening at IVF clinic.
    Aberration: Reciprocal translocation
    Index Terms: Sperm ... chromosome
    Negative band

  • Tayel S M, Al-Naggar R L, Krishna Murthy D S, Naguib K K, Al-Awadi S A.: Familial pericentric inversion of chromosome 1 (p36.3q23) and Bardet-Biedl syndrome. J. Med. Genet. 36:418-419, 1999. [PMC free article: PMC1734370] [PubMed: 10353791]
    A three generation pedigree, with a first cousin marriage (parents of the proband) and several offspring with BBS and inv(1) is presented.
    46,XX and XY, inv(1)(p36.3q23)mat
    Patient was 11 years old and of Libyan ancestry.
    Aberration: Inversion pericentric
    MIM#: 209900
    Index Terms: Bardet-Biedl syndrome

  • Torisu H, Yamamoto T, Fujiwaki T, Kadota M, Oshimura M, Kurosawa K, Akaboshi S, Oka A.: Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1). AJMG DOI=10.1002/ajmg.a.30413; 131A:94-98, 2004. [PubMed: 15384094]
    45,XX,der(1)t(1;15)(p36.31;q13.1)mat,-15.
    The 7 month old patient had several manifestations of AS as well as 1p36 monosomy syndrome.
    Molecular analysis determined the breakpoint of 1p between D1S243 and D1S468 and on 15q between D15S113 and D15S165.
    Aberration: RT,TD,ID
    MIM#: 105830
    Chromosomal Aneuploidy: 1p-;15q-
    Index Terms: Angelman syndrome

  • Uhrig S, Schuffenhauer S, Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M, Muller-Navia J, Cremer T, Murken J, Speicher M R.: Multiplex-FISH for pre- and postnatal diagnostic applications. AJHG 65:448-462, 1999. [PMC free article: PMC1377944] [PubMed: 10417288]
    Zenker M, Rittinger O, Grosse K-P, Speicher M R, Kraus J, Rauch A, Trautmann U.: Monosomy 1p36 - a recently delineated, clinically recognizable syndrome. Clin. Dysmorph. 11:43-48, 2002. [PubMed: 11822705]
    Case 1=46,XY.ish del(1)(p36.32)de novo.,Case 2=46,XX,der(1)t(1;18)(p36.3;p11.2)de novo.,case 3=46,XX.ish del(1)(p36).,Case 4=46,XY,del(1)(p36.3).
    The 2002 report documents 4 cases with severe psychomotor retardation and other anomalies.
    Case 10: The family had a history of recurrent abortions.
    46,XX,t(1;21)(p36.3;q22.1).
    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,XY,t(1;15)(p36.3;q11).
    Aberration: Reciprocal translocation
    Negative band