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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-.

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

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10p130

10p13
  • 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 referred because of seven repeated abortions.
    46,XX,t(10;14)(p13;q14).
    Aberration: Reciprocal translocation
  • Bartsch O, Wagner A, Hinkel G K, Lichtner P, Murken J, Schuffenhauer S.: No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10S585. AJMG 83:425-426, 1999. [PubMed: 10232757]
    Schuffenhauer S, Lichtner P, Peykar-Derakhshandeh P, Murken J, Haas O A, Back E, Wolff G, Zabel B, Barisic I, Rauch A, Borochowitz Z, Dallapiccola B, Ross M, Meitinger T.: Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2). Europ. J. Hum. Genet. 6:213-225, 1998. [PubMed: 9781025]
    Schuffenhauer S, Seidel H, Oechsler H, Belohradsky B, Bernsau U, Murken J, Meitinger T.: DiGeorge syndrome and partial monosomy 10p: case report and review. Ann. Genet. 38: 162-167, 1995. [PubMed: 8540688]
    It maps within a 1 cM interval including D10S547 and D10S585.
    Mother:46,XX,inv(10)(p13q26/qter);,Proband:46,XX,rec(10)dup(10q)inv(10)(p13q26/qter)mat.
    The phenotype included abnormally shaped skull, hypertelorism, ,ow nasal bridge, micrognathia, dysmorphic low set ears, short neck, foot abnormalities, and cardiac defect.
    The DGS mutation was excluded by FISH analysis. The breakpoint on 10p was between D10S189 and D10S191 and proximal to D10S25 on 10q.
    Aberration: Inversion pericentric
    MIM#: 188400
    Chromosomal Aneuploidy: 10p+
    Index Terms: Di George syndrome
    Negative band
  • Berger R, Larroche J C, Toubas P L: Deletion of the short arm of chromosome No. 10. Acta Paed. Scand. 66:659-662, 1977. [PubMed: 899785]
    Case 260476 in this report. Multiple congenital anomalies were present and the child died after 2 days. The karyotypes of both parents were normal.
    46,XY,del(10)(p13).
    Aberration: Terminal deletion
    Negative band
  • Same entry as in 02q320,02q330 (Boue and Gallano, 1984).
  • 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]
    46,XX,der inv(10)(p13q22)mat.
    Aberration: Inversion pericentric
    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 Nos. 890 and 891.
    46,XX,t(10;11)(p13;q15).
    Aberration: Reciprocal translocation
    Negative band
  • Cowchock S: Apparently balanced chromosome translocations and midline defects. AJMG 33:424, 1989. [PubMed: 2801781]
    Case 2
    46,XY,t(10;14)(p13;q24).
    The patient had bilateral cleft palate. The son, also a carrier had an isolated ventricular septal defect.
    Aberration: Simple translocation
    Index Terms: Cleft lip/palate
    Negative band
  • Dasouki M, Jurexic V, Phillips J A, III, Whitlock J A, Baldini A.: DiGeorge anomaly and chromosome 10p deletions: one or two loci? AJMG 73:72-75, 1997. [PubMed: 9375926]
    Patient DW:
    45,XY,-10,-22,+der(10),t(10;22)(p13;q11).
    Patient followed at 15.5 years with facial anomalies including hypertelorism, epicanthal folds, and frontal bossing.
    Aberration: Simple translocation
    MIM#: 188400
    Chromosomal Aneuploidy: 10p-
    Index Terms: Di George syndrome,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
  • Elstner C L, Carey J C, Livingston G K, Moeschler J, Lubinsky M S: Further delineation of the 10p deletion syndrome. Pediatrics 73:670-675, 1984. [PubMed: 6718125]
    Case 1: Patient F.S.; Case 2: Patient R.E.. Parental karyotypes were normal.
    46,XY,del(10)(qter -> p13:).
    Aberration: Terminal deletion
    Negative band
  • Faivre l, Morichon-Delvallez N, Viot G, Larget-Piet A, Narcy F, Turleau C, Pinson M P, Dumez Y, Munnich A, Vekemans M.: Prenatal diagnosis of a satellited non-acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and a review of the literature. Prenat. Diag. 19:282-286, 1999. [PubMed: 10210132]
    Mother=46,XX,der t(10;13)(p13;p12)pat.,First fetus IV-3=46,XX,der(10)t(10;13)(p13;p12)mat.,Second fetus IV-4=46,XY,der(13)t(10;13)(p13;p12)mat.
    Karyotyping aws performed because of IUGR and other anomalies at 23 weeks of gestation in the 32 year old mother (III-2).
    Aberration: SA,RT
    Chromosomal Aneuploidy: 10p-;10p+
  • Francke U, Kernahan C, Bradshaw C L: Del(10)p autosomal deletion syndrome: Clinical, cytogenetic and gene marker studies. Humangenetik 26:343-351, 1975. [PubMed: 1150232]
    Francke U, Mahan G M, Dixson B K, Jones O W: 10p-: A new autosomal deletion syndrome. BD-OAS XI(No. 5):207-212, 1975. [PubMed: 1218215]
    Case K.H. in this report.
    46,XX,del(10)(p13).&46,XX,del(10)(qter -> p13:).
    Aberration: Terminal deletion
    Negative band
  • Friedrich U, Nielsen J: Autosomal deletions 46,XY,del(12)(p11) and 46,XY/46,XY del(5)(p13) with no effect on physical or mental development. Humangenetik 21:127-132, 1974. [PubMed: 4134626]
    Nielsen J, Krag-Olsen B: Follow-up of 32 children with autosomal translocations found among 11,148 consecutively newborn children from 1969 to 1974. Clin. Genet. 20:48-54, 1981. [PubMed: 7296948]
    Nielsen J, Rasmussen K: Autosomal reciprocal translocations and 13/14 translocations: A population study. Clin. Genet. 10:161-177, 1976. [PubMed: 786515]
    Nielsen J, Rasmussen K, Niebuhr E: "Deletion-translocation. del(12)(p11) to t(10;12)(p13;11)." Ann. Genet. 19:53-55, 1976. [PubMed: 1084123]
    Case No. 14,890 in this report.
    46,XX,inv ins(10;14)(p13;q21q24).
    Proband No. 9612 originally reported as del(12)(p11).
    46,XY,t(10;12)(p13;p11).,46,XY,t(10;12)(10qter->10p13::12p11->12pter;,12qter->12p11::10p13->10pter).
    Aberration: II,RT
  • 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,XY,t(10;17)(p13;q11).
    Aberration: Reciprocal translocation
    Index Terms: Pregnancy ... loss
    Negative band
  • Gottlieb S, Driscoll D A, Punnett H H, Sellinger B, Emanuel B S, Budarf M L.: Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype. AJHG 62:495-498, 1998. [PMC free article: PMC1376894] [PubMed: 9463325]
    Monaco G, Pignata C, Rossi E, Mascellaro O, Cocozza S, Ciccimarra F: DiGeorge anomaly associated with 10p deletion. AJMG 39:215-216, 1991. [PubMed: 2063928]
    Patient CH92-304 in Gottlieb et al. Patient has been seen upto 24 months of age.
    46,XY,del(10)(qter -> p13:),der(22)(p13+)pat.
    The patient had hypocalcemia, immune defect, facial dysmorphia, and developmental delay.
    Aberration: Terminal deletion
    MIM#: 188400
    Chromosomal Aneuploidy: 10p-,22p+
    Negative band
  • Hasegawa T, Hasegawa Y, Aso T, Koto S, Nagai T, Tsuchiya Y, Kim K C, Ohashi H, Wakui K, Fukushima Y.: HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). AJMG 73:416-418, 1997. [PubMed: 9415468]
    46,XX,del(10)(qter->p13:)de novo
    The patient was 2 years old with HDR syndrome.
    Aberration: Terminal deletion
    MIM#: 146255
    Chromosomal Aneuploidy: 10p-
    Index Terms: HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia)
  • Junge A, Domke N, Tolkendorf E: Cytogenetic investigation of peripheral lymphocyte cultures in couples with habitual abortions. Zent. Bl. Gynakol. 113:1046-1058, 1991. [PubMed: 1962519]
    46,XY,t(10;12)(p13;q15).
    Aberration: Reciprocal translocation
    Index Terms: Habitual abortions
    Negative band
  • Kiss P, Osztovics M: 10p monosomy, a phenotypic variant. Ann. Genet. 36:232, 1993. [PubMed: 8166433]
    46,XY,del(10)(p13)de novo.
    Patient was 6 years old with growth and mental retardation.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 10p-
    Negative band
  • Klep-de-Pater J M, Bijlsma J B, Alkema F M J: Partial monosomy 10p syndrome. Europ. J. Ped. 137:243-246, 1981. [PubMed: 7308236]
    Patient (AT 28-05-1972) was 7 years old and showed a de novo deletion.
    46,XX,del(10)(qter -> p13:).
    Aberration: Terminal deletion
    Negative band
  • Koenig R, Kessel E K, Schoenberger W: Partial monosomy 10p syndrome. Ann. Genet. 28:173-176, 1985. [PubMed: 3879152]
    Patient was 15 months old with many congenital anomalies.
    46,XY,del(10)(p13).
    Aberration: Terminal deletion
    Negative band
  • Moric-Petrovic S, Laca Z, Krajgher A, Milosevic J: "Two cases of partial trisomy 10p due to a paternal t(10;18)(p13;q23) translocation." Ann. Genet. 19:195-197, 1976. [PubMed: 1086628]
    Individual II-2 (000019) in the pedigree.
    46,XY,t(10;18)(p13;q23).,46,XY,t(10;18)(10qter->10p13::18q23->18qter;18pter->18q23::10p13->10pter).
    Individuals III-2 (000045) and IV-1 (000063) in the pedigree.
    46,XY,der(10)der(18)t(10;18)(p13;q23)pat.
    Individuals IV-3 (00071) and IV-4 (00073) in the pedigree.
    46,XY,der(18)rcp(10;18)(p13;q23)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Same entry as in 10p110,10p112 (Obregon M G et al, 1992).
  • Oka S, Nakano H, Yokochi T, Ueda K, Saito A: Distal deletion of the short arm of chromosome No. 10: A case report. Jpn. J. Hum. Genet. 28:291-296, 1983. [PubMed: 6678316]
    Patient was 2 years 5 months old.
    46,XY,del(10)(qter -> p13:).
    Aberration: Terminal deletion
    Negative band
  • 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,XY,inv(10)(p13q22).
    Aberration: Inversion pericentric
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Prieto-Garcia F, Badia-Garrabou L, Moreno J A, Barbero P, Asensi F: 10p- syndrome associated with multiple chromosomal abnormalities. Hum. Genet. 45:229-235, 1978. [PubMed: 738725]
    46,XY,t(2;4),t(9;13),del(10)(p13),ins(12)q.&This patient presents some clinical features similar -> those reported in other cases of 10p- syndrome.
    Aberration: Interstitial deletion
    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. 1303.
    46,XY,inv(10)(p13q11)mat.
    Observation No. 1304.
    46,XY,inv(10)(p13q21)pat.
    Aberration: Inversion pericentric
    Negative band
  • Shapira M, Borochowitz Z, Bar-El H, Dar H, Etzioni A, Lorber A: Deletion of the short arm of chromosome 10 (10p13): report of a patient and review. AJMG 52:34-38, 1994. [PubMed: 7977458]
    46,XY,del(10)(p13)de novo.
    Patient is 4 years old.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 10p-
    Negative band
  • Shokeir M H K, Ray M, Hamerton J L, Bauder F, O''Brien H: Deletion of the short arm of chromosome No. 10. J. Med. Genet. 12:99-103, 1975. [PMC free article: PMC1013238] [PubMed: 47396]
    Case 200673 in this report.
    46,XY,del(10)(p13).&This infant with multiple congenital anomalies died at 13 weeks of age. The clinical features were cleft lip and palate, preauricular pits, low-set malpositioned auricles, antimongoloid slant of the eyes, microcephaly, micrognathia, congenital heart disease, hypertrophic pyloric stenosis, cryptorchidism and abnormal dermatoglyphics.
    Aberration: Terminal deletion
    Index Terms: Cleft lip/palate,Congenital heart defects (cardiovascular anomalies),Cryptorchidism, (see also Testes, undescended),Ears ... low-set,Ears ... preauricular pits,Eye ... antimongoloid,Microcephaly,Micrognathia,Pyloric stenosis hypertrophic
    Negative band
  • Sunada F, Rash F C, Tam D A.: MRI findings in a patient with partial monosomy 10p. J. Med. Genet. 35:159-161, 1998. [PMC free article: PMC1051224] [PubMed: 9507399]
    46,XX,del(10)(pter->p13)de novo
    The infant had MCA, seizures not associated with hypocalcemia, cortical atrophy and decreased white matter volume on MRI.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 10p-
    Index Terms: MRI
  • Tuerlings J H A M, de France H F, Hamers A, Hordijk R, Van Hemel J O, Hansson K, Hoovers J M N, Madan K, Van Der Blij-Philipsen M, Gerssen-Schoorl K B J, Kremer J A M, Smeets D F C M.: Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience. Europ. J. Hum. Genet. 6:194-200, 1998. [PubMed: 9781022]
    46,XY,inv(10)(p13q22.3)
    Aberration: Inversion pericentric
    Index Terms: ICSI
  • Turleau C, Rethore M O, Junien C, Lejeune J, de Grouchy J: 46,XX/46,XX,del(10)(p13)/47,XX,+r/47,XX,del(10)(p13),+r mosaicism and partial trisomy 10p phenotype. Ann. Genet. 22:178-181, 1979. [PubMed: 316677]
    Patient''s phenotype was found to be compatible with 10p trisomy, ring chromosome is thought to be of 10p material. Karyotypes of the parents were normal.
    Aberration: Ring chromosome
    Negative band
  • Uchida I A, Freeman V C P: Trisomy 21 Down syndrome. II. Structural chromosome rearrangements in the parents. Hum. Genet. 72:118-122, 1986. [PubMed: 2935479]
    Family No. 1.
    47,XY,+21,t(10;16)(p13;q13)pat.
    Aberration: Simple translocation
    Index Terms: Down syndrome (Trisomy 21)
    Negative band
  • Voullaire L, Gardner R J M, Vaux C, Robertson A, Oertel R, Slater H.: Chromosomal duplication of band 10p14 segregating through four generations. J. Med. Genet. 37:233-237, 2000. [PMC free article: PMC1734537] [PubMed: 10777370]
    46,XX and XY,der dup(10)(p13p15)mat and pat
    Family members with dup(10) showed minor dysmorphisms including midfacial flatness.
    Aberration: Duplication
    Chromosomal Aneuploidy: 10p+
  • Yatsenko S A, Yatsenko A N, Szigeti K, Craigen W J, Stankiewicz P, Cheung S W, Lupski J R.: Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome. Clin. Genet. DOI=10.1111/j.1399-0004.2004.00290.x, 2004. [PubMed: 15253763]
    Patient TB=46,XY,del(10)(p13p14). The deletion extends from RP11-401E9 to RP11-299M5 and encompasses both the HDR and proposed DGS2 critical regions.
    The patient died at the age of 94 days.
    Aberration: Interstitial deletion
    MIM#: 601362
    Chromosomal Aneuploidy: 10p-
    Index Terms: DiGeorge 2 syndrome,ASD
  • Yip M Y, Williams J, Goddard A, Campbell P, Lambert I, Smithells R W: "Multiple abnormalities in a child with partial duplications of 10p and 13q from a 3:1 segregation of a maternal t(10;13) translocation." J. Med. Genet. 27:188-191, 1990. [PMC free article: PMC1017002] [PubMed: 2325093]
    46,XX,der(10),der(13),t(10;13)(p13;q22)mat & pat.&"47,XX,+der(13),t(10;13)(13pter -> 13q22::10p13 -> 10pter)mat."
    The translocation was traced in three generations.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 10p+,13q+
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105812

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