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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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16p133

16p13.3
  • Bartsch O, Rasi S, Delicado A, Dyack S, Neumann L M, Seemanova E, Volleth M, Haaf T, Kalscheuer V M.: Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias sever Rubinstein-Taybi syndrome. Hum. Genet. DOI=10.1007/s00439-006-0215-0; 120: 179-186, 2006. [PubMed: 16783566]
    These authors suggested that severe RSTS is distinct from RSTS and represents a novel true contiguous gene syndrome (chromosome 16p13.3 deletion syndrome). The patients with severe RSTS all had deletions comprising telomeric neighbor genes of CREBBP, including DNASE1.
    Aberration: TD,ID
    MIM#: 180849
    Chromosomal Aneuploidy: 16p-
    Index Terms: Rubinstein-Taybi syndrome (RSTS),DNASE1,CREBBP
  • Bhalla K, Philips H A, Crawford J, McKenzie O L D, Mulley J C, Eyre H, Gardner A E, Kremmidiotis G, Callen D F.: The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene. J. Hum. Genet. DOI=10.1007/s10038-004-0145-4; 49:308-311, 2004. [PubMed: 15148587]
    Callen D F, Eyre H, McDonnell S, Schuffenhauer S, Bhalla K.: A complex rearrangement involving simultaneous translocation and inversion is associated with a change in chromatin compaction. Chromosoma 111:170-175;DOI=10.1007/s00412-002-0203-7, 2002. [PubMed: 12355206]
    46,XY,t(14;16)(q32;p13.3)inv(16)(p13.3;p12.1).
    The patient was 14 years old with some dysmorphic features, mild MR, and behavioral difficulties.
    Patient 1=46,XY,t(1;16)(q12;p13.3) de novo.,Patient 2=46,XY,t(14;16)(q32;p13.3)de novo,inv(16)(p13.3p12.1)de novo
    Patient 1 had severe intellectual and developmental retardation but no dysmorphic features other than strabismus and down-turned angles of the mouth. There was a single episode of fitting at 5 days old.,Patient 2 had mild dysmorphism, clinodactyly of the fifth finger, and mild cutaneous bilateral syndactyly of toes two and three. At age 14, he showed mild MR with a history of slow milestones and behavioral problems. A grand mal seizure at 5 years of age was followed by another 2 years later. There were two additional seizures and short absences before control with drug treatment.
    Aberration: RT,IP
    MIM#: 605104
    Index Terms: A2BP1,Epilepsy
  • Blough R I, Petrij F, Dauwerse J G, Milatovich-Cherry A, Weiss L, Saal H M, Rubinstein J H.: Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome. AJMG 90:29-34, 2000. [PubMed: 10602114]
    Using a panel of five cosmids, 66 patients with RTS were studied by FISH.
    Four different deletions of the CREB-binding protein (CBP) gene were found.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 16p-
    Index Terms: Rubinstein-Taybi syndrome,Cyclic AMP-responsive element-binding protein gene
  • Breuning M H, Dauwerse H G, Fugazza G, Saris J J, Spruit L, Wijnen H, Tommerup N, van der Hagen C B, Imaizumi K, Kuroki Y, van den Boogaard M J, de Pater J M, Mariman E C M, Hamel B C J, Himmelbauer H, Frischauf A M, Stallings R L, Beverstock G C, van Ommen G J B, Hennekam R C M: Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. AJHG 52:249-254, 1993. [PMC free article: PMC1682202] [PubMed: 8430691]
    Imaizumi K, Kurosawa K, Masuno M, Tsukahara M, Kuroki Y: Chromosome aberrations in Rubenstein-Taybi syndrome. Clin. Genet. 43:215-216, 1993. [PubMed: 8330456]
    McGaughran J M, Gaunt L, Dore J, Petrij F, Dauwerse H G, Donnai D.: Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients. J. Med. Genet. 33: 82-83, 1996. [PMC free article: PMC1051820] [PubMed: 8825057]
    Taine L, Goizet C, Wen Z Q, Petrij F, Breuning M H, Ayme S, Saura R, Arveiler B, Lacombe D.: Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome. AJMG 78:267-270, 1998. [PubMed: 9677064]
    24 patients were studied.
    RTS is caused by submicroscopic interstitial deletions with 16p13.3 in approximately 25% of the patients.
    Data on 30 patients were reported in the 1998 paper.
    46,XX,inv(16)(p13.3q13).,46,XX,t(7;17)(pter;q11.22).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 16p-
    Index Terms: Rubinstein-Taybi syndrome
    Negative band
  • Brown J, Horsley S W, Jung C, Saracoglu K, Janssen B, Brough M, Daschner M, Beedgen B, Kerkhoffs G, Eils R, Harris P C, Jauch A, Kearney L.: Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL. Europ. J. Hum. Genet. 8:903-910, 2000. [PubMed: 11175277]
    Popp S, Schulze B, Granzow M, Keller M, Holtgreve-Grez H, Schoell B, Brough M, Hager H-D, Tariverdian G, Brown J, Kearney L, Jauch A.: Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay. Hum. Genet. DOI=10.1007/s00439-002-0739-x; 111:31-39, 2002. [PubMed: 12136233]
    Proband=46,XY,der(16)t(16;19)(p13.3;p13.3)mat.
    The infant was 4 months old showing opisthotonus, dolichocephaly, and facial dysmorphism.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 16p-;19p+
    Index Terms: FISH, M-TEL
  • Can B, Qu Y, Jackson L G, Floyd M, Say B.: Two sisters with different chromosomal microdeletions: Rubinstein-Taybi syndrome and 22q deletion syndrome. Clin. Genet. 54:371-372, 1998. [PubMed: 9831356]
    Case 1:
    ish del(16)(D16S21-)
    Case 2:
    46,XX,del(22)(q11.2).ish del(22)(D22S75-)
    Aberration: Interstitial deletion
    MIM#: 180849
    Chromosomal Aneuploidy: 16p-
    Index Terms: Rubinstein-Taybi syndrome
  • Castle D, Bernstein R: Cytogenetic analysis of 688 couples experiencing multiple spontaneous abortions. AJMG 29:549-556, 1988. [PubMed: 3376998]
    46,XX,inv(16)(p13.3q13)
    Aberration: Inversion pericentric
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Conte R A, Kleyman S M, Chaula K, Verma R S.: Delineation of a ring chromosome 16 by FISH-technique: a case report with review. Clin. Genet. 51:196-199, 1997. [PubMed: 9137886]
    46,Xy,r(16)(::pter or ::p13.3->qter::)/46,XY
    The 5 year old was being evaluated for autistic behavior and tested negative for fragile X syndrome.
    Aberration: Ring chromosome
    No band
  • Daniels R J, Peden J F, Lloyd C, Horsley S W, Clark K, Tufarelli C, Kearney L, Buckle V J, Doggett N A, Flint J, Higgs D R.: Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. Hum. Mol. Genet. 10:339-352, 2001. [PubMed: 11157797]
    Lindor N M, Valdes M G, Wick M, Thibodeau S N, Jalal S.: De novo 16p deletion: ATR-16 syndrome. AJMG 72:451-454, 1997. [PubMed: 9375730]
    Aberration: Terminal deletion
    MIM#: 141750
    Chromosomal Aneuploidy: 16p-
    Index Terms: ATR-16 (alpha-thalassemia retardation-16) syndrome
    No band
  • Daniels R J, Peden J F, Lloyd C, Horsley S W, Clark K, Tufarelli C, Kearney L, Buckle V J, Doggett N A, Flint J, Higgs D R.: Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. Hum. Mol. Genet. 10:339-352, 2001. [PubMed: 11157797]
    Patients BA, TN, GS, BO, IM, and LIN were studied.
    Aberration: TD,ID
    Chromosomal Aneuploidy: 16p-
  • Eussen B H J, Bartalini G, Bakker L, Balestri P, Di Lucca C, Van Hemel J O, Dauwerse H, van den Ouweland A M W, Ris-Stalpers C, Verhoef S, Halley D J J, Fois A.: An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito. J. Med. Genet. 37:287-291, 2000. [PMC free article: PMC1734565] [PubMed: 10745047]
    Proband=46,XY,der(16)t(8;16)(16qter->p13.3::8q24.3->8qter)pat.,Father=46,XY,t(8;16)(q24.3;p13.3)
    The patient had TS complex (TSC), and had [alpha] thalassaemia trait, and his half brother, who also had TSC may have suffered from polycystic kidney disease.
    This is a 3-generation family.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 16p-
    Index Terms: Tuberous sclerosis complex, Adult polycystic kidney disease, Hypomelanosis of Ito
  • Harteveld C L, Voskamp A, Phylipsen M, Akkermans N, den Dunnen J T, White S J, Giordano P C.: Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta- thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J. Med. Genet. 42:922-931, 2005. [PMC free article: PMC1735959] [PubMed: 15894596]
    Aberration: ID,TD
    Chromosomal Aneuploidy: 16p-
    Index Terms: Multiplex ligation-dependent probe amplification (MLPA), alpha- and beta thalassemia
  • Horsley S W, Daniels R J, Anguita E, Raynham H A, Peden J F, Villegas A, Vickers M A, Green S, waye J S, Chui D H K, Ayyub H, MacCarthy A B, Buckle V J, Gibbons R J, Kearney L, Higgs D R.: Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects. Europ. J. Hum. Genet. 9:217-225, 2001. [PubMed: 11313762]
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 16p-
    No band
  • Kellermayer R, Czako M, Kiss-Laszlo Z, Gyuris P, Kozari A, Melegh B, Kosztolanyi G.: Alpha-thalassemia/mental retardation syndrome in a 45,X male. AJMG 132A:431-433, 2005. [PubMed: 15633163]
    45,X,t(Y;16)(p11.2;p13.3)
    The child had alpha-thalassemia/mental retardation syndrome and pubertal delay.
    Aberration: ID,ST
    Chromosomal Aneuploidy: 16p-
    Index Terms: Alpha-thalassemia/MR syndrome
  • Kupchik G S, Barrett S K, Babu A, Charria-Ortiz G, Velinov M, Macera M J.: Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguinous parents with an identical balanced translocation. Europ. J. Med. Genet. 1:57-65, 2005. [PubMed: 15953407]
    46,XY,t(16;18)(p13.3;p11.2),der(18)t(16;18)(16ptel-,16qtel+,18ptel+,wcp16+,wcp18+,16ptel+,18ptel-,wcp16+,wcp18+),der(18)(16ptel+,18ptel-,wcp16+,wcp18+).
    The 2 month old patient was found to have MCA and mild growth retardation.
    Both parents, who are first cousins, and older siblings are carriers.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 16p+;18p-
    Index Terms: Consanguinity and translocation
  • Martin C L, Waggoner D J, Wong A, Uhrig S, Roseberry J A, Hedrick J F, Pack S D, Russell K, Zackai E, Dobyns W B, Ledbetter D H.: "Molecular rulers" for calibrating phenotypic effects of telomere imbalance. J. Med. Genet. 39:734-740, 2002. [PMC free article: PMC1734978] [PubMed: 12362030]
    Aberration: ST,RT
    Chromosomal Aneuploidy: 16p+,17p-
    Index Terms: Molecular rulers, Telomere imbalance
  • Masuno M, Imaizumi K, Kurosawa K, Makita Y, Petrij F, Dauwerse H G, Breuning M H, Kuroki Y.: Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome. AJMG 53:352-354, 1994. [PubMed: 7864045]
    In one out of 25 patients a submicroscopic deletion was demonstrated by the use of a cosmid probe RT1, D16S237.
    In all 25 patients were studied.
    All patients had normal karyotypes at the 550-850 band level.
    Also see report by Imaizumi et al (1993) under 02p13.3.
    Aberration: Interstitial deletion
    MIM#: 180849
    Chromosomal Aneuploidy: 16p-
    Index Terms: Rubinstein-Taybi syndrome
    Negative band
  • Miller K, Flatz S D: Segregation of two independent chromosomal translocations in one family. Hum. Genet. 68:93-95, 1984. [PubMed: 6500562]
    46,XX and XY,t(16;22)(p133;q112)mat.&"47,XY,t(3;19)(p250;q134)mat,+der(22),t(16;22)(p133;q112)mat."
    Aberration: Reciprocal translocation
    Negative band
  • Petrij F, dorsman J C, Dauwerse H G, Giles R H, Peeters T, Hennekam R C M, Breuning M H, Peters D J M.: Rubinstein-Taybi syndrome caused by a de novo reciprocal translocation t(2;16)(q36.3;p13.3). AJMG 92:47-52, 2000. [PubMed: 10797422]
    46,XY,t(2;16)(q36.3;p13.3)
    Aberration: Reciprocal translocation
    MIM#: 180849
    Index Terms: Rubinstein-Taybi syndrome
  • 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 C=46,XX,t(16;17)(p13.3;p11.1).
    Biochemical pregnancy.
    Aberration: Reciprocal translocation
    Index Terms: PGD
  • Sirko-Osadsa D A, Cassidy S B, Depinet T W, Robin N H, Limwongse C, Schwartz S.: Molecular refinement of karyotype: beyond the cytogenetic band. Genet. in Med. 1:254-261, 1999. [PubMed: 11258626]
    Patient 4;
    46,XX,del(16)(p13.3p13.3)de novo. The breakpoint is proximal to marker D16S3024.
    The 15 mo patient had MCA including a history of right hip dysplasia, congenital lumbar scoliosis and mild developmental delay.
    Aberration: Interstitial deletion
    MIM#: 141750
    Chromosomal Aneuploidy: 16p-
  • Taine L, Goizet C, Wen Z Q, Petrij F, Breuning M H, Ayme S, Saura R, Arveiler B, Lacombe D.: Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome. AJMG 78:267-270, 1998. [PubMed: 9677064]
    Data on 30 patients were reported in the 1998 paper.
    46,XX,inv(16)(p13.3q13).,46,XX,t(7;17)(pter;q11.22).
    Aberration: PI,ST,ID
    Chromosomal Aneuploidy: 16p-
    Index Terms: Rubinstein-Taybi syndrome
  • The European polycystic kidney disease consortium:, Harris P C, Santos H: The polycystic kidney disease 1 gene encodes a 14kb transcript and lies within a duplicated region on chromosome 16. Cell 77:881-894, 1994. [PubMed: 8004675]
    Family 77:
    46,XX,t(16;22)(p13.3;q11.21)de novo.&45,XY,-16,-22,+der(16)t(16qter->16p13.3::22q11.21->22qter)mat.
    Mother and daughter also carriers and have ADPKD. The proband has TSC.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 16p-,22q+
    Index Terms: Tuberous sclerosis,Adult polycystic kidney disease(ADPKD)
    Negative band
  • Thienpont B, Bena F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone J M, Fong C-T, Kussmann J L, Grange D K, Gorski J L, Zahir F, Yong S L, Morris M M, Gimelli S, Fryns J-P, Mortier G, Friedman J M, Villard L, Bottani A, vermeesch J R, Cheung S W, devriendt K.: Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J. Med. Genet. 47: 155-161, 2010. [PubMed: 19833603]
    Aberration: Duplication
    Index Terms: CREBBP,Rubinstein-Taybi
  • Wallerstein R, Anderson C E, Hay B, Gupta P, Gibas L, Ansari K, Cowchock F S, Weinblatt V, Reid C, Levitas A, Jackson L.: Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population. J. Med. Genet. 34:203-206, 1997. [PMC free article: PMC1050893] [PubMed: 9132490]
    RT1 probe is thought to be of limited value as a screening tool.
    46,XY,t(1;16)(p34.1;p13.2)
    Aberration: Interstitial deletion
    MIM#: 180849
    Chromosomal Aneuploidy: 16p-
    Index Terms: Rubinstein-Taybi syndrome
    No band
  • Same entry as in 01p133,11p112 (Warburton D, 1991).
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105541
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