18p112

18p11.2

Publication Details

  • Asano T, Ikeuchi T, Shinohara T, Enokido H, Hashimoto K: Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3). Jpn. J. Hum. Genet. 36:257-265, 1991. [PubMed: 1753439]
    46,XX,inv(18)(p11.2q21.3).&46,XY,rec(18),dup q,inv(18)(p11.2q21.3)mat.&46,XY,rec(18)(qter -> q21.3::p11.2 -> qter)mat.
    Patient was 7 years old with MCA/MR.
    Aberration: PI,RE
    Negative band

  • Ayukawa H, Tsukahara M, Fukuda M, Kondoh O: Recombinant chromosome 18 resulting from a maternal pericentric inversion. AJMG 50:323-325, 1994. [PubMed: 8209910]
    Proposita, 0999101:
    46,XX,-18,+rec(18)dup q,inv(18)(pter -> p11.2::q12.2 -> p11.2::q12.2 -> qter)mat.&Mother:46,XX,inv(18)(p11.2q12.2).
    Patient died at 3 months of age.
    Aberration: PI,RE
    Chromosomal Aneuploidy: 18q+
    Negative band

  • Chen C-P, Chern S-R, Wang W, Lee C-C, Chen W-L, Chen L-F, Chang T-Y, Tzen C-Y.: Prenatal diagnosis of partial monosomy 18p(p11.2->pter) and trisomy 21q(21q22.3->qter) with alobar holoprosencephaly and premaxillary agenesis. Prenat. Diag. 21:346-350, 2001. [PubMed: 11360273]
    46,XY,der(18)t(18;21)(p11.2;q22.3)mat.,Mother=46,XX,t(18;21)(p11.2;q22.3).
    The pregnancy was terminated. Autopsy showed alobar HPE with PMA, pituitary dysplasia, clinodactyly but no DS features.
    Aberration: Reciprocal translocation
    MIM#: 236100
    Chromosomal Aneuploidy: 18p-;21q+
    Index Terms: Holoprosencephaly alobar, premaxillary agenesis

  • 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 IV-12 from Saxe D.
    mos46,XY/46,XY,del(18)(p11.2)[25.8%].
    Normal male abortus.
    Case IV-13 from Melnyk J H.
    mos45,XY,-18[1.8%]/46,XY/46,XY,18p-[3.5%].,Blood culture=18p-[2%].
    Normal male liveborn and at 7 months.
    Case IV-14 from Hsu L Y F (PDL 5351).
    mos45,XX,-18[12.3%]/46,XX/46,XX,18p-[5.2%]. ,Also mosaic in abortion fluid.,Skin fibroblasts=46,XY.
    Abnormal female abortus with microcephaly, mongoloid slant of eyes, pointed chin, gap between 1st and 2nd toes.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 18p-
    Negative band

  • Israels T, Hoovers J, Turpijn H M, Wijburg F A, Hennekam R C M.: Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion. Clin. Genet. 50:520-524, 1996. [PubMed: 9147887]
    46,XY,rec(18),dupq,inv(18)(p11.2q21.1)pat.
    The proband was dysmorphic and developmentally retarded.
    Aberration: Inversion pericentric
    Chromosomal Aneuploidy: 18p-;18q+
    No band

  • Jinno Y, Matsumoto T, Kamel T, Kondoh T, Maeda S, Araki S, Shimada K, Niikawa N: Localization of the human prealbumin gene to 18p11.1-q12.3 by gene dose effect study of Southern blot hybridization. Jpn. J. Hum. Genet. 31:243-248, 1986. [PubMed: 3560511]
    Four EBV-transformed lymphoblastoid cell lines were studied.
    Line 8011L: 46,XX,inv(18)(p11.2q21.3).&Line 7953L: 46,XY,rec(18)dup q inv(18)(p11.2q21.3)mat.&Line MH: 46,XX,del(18)(p11.2p11.32).
    Aberration: Inversion pericentric
    MIM#: 176300
    Negative band

  • Kukolich M K, Althaus B W, Sears J W, Mankinen C B, Lewandowski R C: Abnormalities resulting from a familial pericentric inversion of chromosome 18. Clin. Genet. 14:98-104, 1978. [PubMed: 688692]
    46,XX or XY,inv(18)(p112q211)mat.&46,XX or XY,inv(18)(pter -> p112::q211 -> p112::q211 -> qter)mat.&46,XX,rec(18),dup q,inv(18)(p112q211)mat.&The 1 year old patient had features of trisomy 18q. Risk for a carrier of an inversion to produce an offspring with duplication/deficiency was calculated to be 10%.
    Aberration: Inversion pericentric
    Negative band

  • Same entry as in 01q42.1 (Liberfarb et al, 1979).

  • Li S, Tuck-Muller C M, Martinez J E, Rowley E R, Chen H, Wertelecki W.: Prenatal detection of de novo duplication of the short arm of chromosome 18 confirmed by fluorescence in situ hybridization (FISH). AJMG 80:487-490, 1998. [PubMed: 9880213]
    46,XY,add(18)(p11.3).ish dup(18)(p11.2p11.32)(wcp18+,D18Z1+)
    At the age of 8 months, the developmental level was of 4 months, and he had hypotonia, deep-set eyes, bilateral epicanthic folds, short upturned nose, micrognathia, and redundant nuchal skin.
    Aberration: Direct duplication
    Chromosomal Aneuploidy: 18p+

  • Mejia-Baltodano G, Bobadilla L, Gonzalez R M, Barros-Nunez P.: High recurrence of recombinants in a family with pericentric inversion of chromosome 18. Ann. Genet. 40:164-168, 1997. [PubMed: 9401106]
    A family with an inv(18) carrier father and his three children with rec(18) are reported.
    Father=46,XY,inv(18)(p11.2q22).,Case 3, older sister and the youngest brother=46,XX or XY,rec(18)dup p, def q(p11.2q22)pat.,Case 1, proband=46,XX,rec(18)dup q,def p(p11.2q22)pat.
    There were minor physical anomalies but none characteristic.
    Aberration: PI,RE
    Chromosomal Aneuploidy: 18p_;18p+

  • Nakayama J, Hamano K, Shimakura Y, Iwasaki N, Nakahara C, Imoto N, Kobayashi K, Arinami T, Hamaguchi H.: Abnormal myelination in a patient with ring chromosome 18. Neuropediat. 28:335-337, 1997. [PubMed: 9453033]
    The 3 year old patient had MCA and MR.
    46,XY,r(18)(p11.2q21.33)de novo
    Abnormal myelination was observed by MRI. Only one copy of the myelin basic protein gene derived from the mother was found.
    Aberration: Ring chromosome
    MIM#: 159430
    Index Terms: Abnormal myelination
    No band

  • Nazarenko S A, Ostroverkhova N V, Vasiljeva E O, Nazarenko L P, Puzyrev V P, Malet P, Nemtseva T A.: Keratosis pilaris and Ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation. AJMG 85:179-182, 1999. [PubMed: 10406673]
    The patient was 18 years old.
    46,XY,der(18)t(Y;18).ish dic(Y;18)(p11.2;p11.2)(DYZ3+,D18Z1+), with monosomy for 18p11.2->pter and duplication of Yp11.2->qter).
    Parental karyotypes were normal.
    Aberration: Dicentric chromosome
    Chromosomal Aneuploidy: 18p-;Yp-
    Index Terms: Keratosis pilaris,Ulerythema ophryogenes

  • Pfeiffer R A, Hertrich K, Cohen M.: Single mandibular incisor in a patient with del (18p) anomaly. Clin. Genet. 46:430-432, 1994. [PubMed: 7889660]
    Patient was 8 years old.
    45,XY,der dic(18)(18qter->18p11.2::22p11.2->22qter)de novo.
    Minor facial anomalies were noted and three permanent mandibular incisors were noted.
    Aberration: Dicentric chromosome
    Chromosomal Aneuploidy: 18p-
    Index Terms: Incisor, single mandibular
    Negative band

  • Prabhakara K, Wyandt H E, Hunag X L, Prasad K S, Ramadevi A R.: Recurrent proximal monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18. Ann. Genet. 47:297-303, 2004. [PubMed: 15337476]
    Mother=46,XX,inv(18)(p11.2q21).,Patient=46,XY,+18,der[18;inv(18)][q10;q10]mat.,Fetus=46,XY,+18,der[18;inv(18)][q10;q10]mat.
    The first child with MCA died at the age of 7 months due to cardiac arrest. The mother was subsequently followed and the second pregnancy was terminated.
    The author suggest a germinal mosaicism for the ''translocation'' chromosome in the mother because it was being transmitted in two offspring.
    Aberration: PI,RE,ST
    Chromosomal Aneuploidy: 18p-;18q+

  • Rocchi M, Cigui I, Archidiacono N, Pecile V, Porcelli G, Filippi G: A young girl with ring(18) mosaicism: cytogenetic studies and PEP A mapping. Clin. Genet. 26:156-160, 1984. [PubMed: 6380829]
    mos46,XX,r(18)(p112q22)/45,XX,-18.&The data suggest that PEP A locus was lost in the ring formation.
    Aberration: Ring chromosome
    Negative band

  • Sahoo T, Naeem R, Pham K, Chheng S, Noblin S T, Bacino C A, Gambello M J.: A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation. AJMG DOI=10.1002/ajmg.a.30535; 133A:93-98, 2005. [PubMed: 15637724]
    46,XY,i(18)(q10).ish i(18)(q10)(D18S1390++,D18Z1+),der(10)t(10;18)(q26.3;p11.2)(D10S2488+,D10S2490+,D18S552+)[25]/46,XY,i(18)(q10).ish i(18)(q10)(D18S1390++,D18Z1+)[9].
    The malformed infant died on day 35.
    Aberration: IC,ST
    Chromosomal Aneuploidy: 18q+

  • Su P-H, Chen J-Y, Chen S-J, Yang M-S, Liu Y-L.: Basilar artery dolichoectasia in a boy with a combination of partial monosomy 18p and partial trisomy 20q. Clin. Dysmorphol. 15: 225-228, 2006. [PubMed: 16957478]
    Father=46,XY,t(18;20)(p11.2;q13.3).,46,XY,der(18)t(18;20)(p11.2;q13.3)pat.
    A 11 year old boy with facial dysmorphism, severe MR, short stature, imperforate anus, and basilary artery dolichoectasia is reported.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 18p-; 20q+
    Index Terms: Basilar artery dolichectasia

  • Tsukahara M, Imaizumi K, Fujita K, Tateishi H, Uchida M.: Familial del(18p) syndrome. AJMG 99:67-69, 2001. [PubMed: 11170097]
    Propositus=46,XY,der dell(18)(p11.2)mat.,Elder sister=46,XX,der del(18)(p11.23)mat.,Mother=46,XX,del(18)(p11.2)
    All three have the characteristic round face, upturned nostrils, micrognathia of 18p- syndrome.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 18p-
    Index Terms: 18p- familial

  • Uchida I A, Freeman V, 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. 1324.
    46,XX,inv(18)(p11.2q12.2)mat.
    Aberration: Inversion pericentric
    Negative band

  • Velagaleti G V N, Harris S, Carpenter N J, Coldwell J, Say B.: Familial deletion of chromosome 18 (p11.2). Ann. Genet. 39:201-204, 1996. [PubMed: 9037347]
    The 18yo proband was referred because of short stature and MR.
    46,XX,der del(18)(p11.2)mat
    The 42yo was mildly retarded.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 18p-
    Negative band

  • Same entry as in 03q220, 10q240 (Wenger et al, 1995).

  • Wieczorek D, Bartsch O, Gillessen-Kaesbach G.: Distal monosomy 18p/distal trisomy 20p - a recognizable facial phenotype? AJMG DOI=10.1002/ajmg.a.20060;120A:429-433, 2003. [PubMed: 12838568]
    Patient=46,XY,der(18)t(18;20)(p11.2;p12.3)pat.ich der(18)t(18;21)(wcp20+,D20S1157+,AC069572-,AFMb08zfl/D18476-,D18S481/D18S63-).
    At the age of 2.5 years, the patient was evaluated because of developmental delay, and reevaluted after 8 years.
    The deleted area comprises at least 3.7 Mbp in size.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 18p-;20p+

  • Zouboulis Ch C, Stratakis C A, Rinck G, Wegner R D, Gollnick H, Orfanos C E: Ulerythema ophryogenes and keratosis pilaris in a child with monosomy 18p. Pediat. Dermatol. 11:172-175, 1994. [PubMed: 8041661]
    46,XY,del(18)(p11.2)de novo.
    Patient was 13 years old with follicular, partially inflammatory, keratotic papules of the eyebrows, foreskin, and cheeks (ulerythema ophryogenes) as well as the shoulders, upper back, upper arms, and thighs (keratosis pilaris), initially diagnosed as atopic dermatitis.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 18p-
    Index Terms: Keratosis pilaris,Ulerythema ophryogenes
    Negative band