02q372

2q37.2

Publication Details

  • Astbury C, Christ L A, Aughton D J, Cassidy S B, Kumar A, Eichler E E, Schwartz S.: Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities. Genet. in Med. 6:81-89, 2004. [PubMed: 15017330]
    Patient 4:
    46,X,der(X)(8qter->8q?21.2::Xp?21->Xqter),t(2;13)(2pter->2q37.2::13q31->13qter),der(8)(8pter->8q11.23::12q34.31->12qter),del(11)(11pter->11p14.2::11p11.2->11qter),der(12)(12pter->12q15::12q24.31->12q15::8q?->8q?::Xp?21->Xpter).
    The 17-day-old girl was referred because of aniridia and CHD.
    Parental karyotypes were normal. Deletion in 11p confirmed with cosmid probes.
    Aberration: Complex translocation
    Chromosomal Aneuploidy: 11p-
    Index Terms: Aniridia

  • Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]
    Patient I.P. No. 18717 in this report.
    46,XX,t(2;10)(q372;q26).&"46,XX,t(2;10)(2pter -> 2q372::10q26 -> 10qter;10pter -> 10q26::2q372 -> 2qter)."&"46,XY,der(2)t(2;10)(q372;q26)mat."
    Aberration: Reciprocal translocation
    Positive band

  • Bacino C A, Bischoff F Z, Shaffer L G.: Correspondence Re: Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions: Bruyere H, Rajcan-Separovic E, Doyle J, Pantzar T, Langlois S. AJMG DOI=10.1002/ajmg.a.30219; 130A:439-440, 2004. [PubMed: 15389713]
    Bruyere H, Rajcan-Separovic E, Doyle J, Pantzar T, Langlois S.: Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions. AJMG 123A: 285-289, 2003. [PubMed: 14608651]
    46,XX,t(2;17)(q37.2;q25).,46,XY,der(17)t(2;17)(q37.2;q25)mat.
    The young woman had a history recurrent miscarriages and infant deaths with different partners.
    CGH was used to determine the abnormality.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 2q-;17q+

  • Baena N, De Vigan C, Cariati E, Clementi M, Stoll C, Caballin M R, Guitart M, The EUROSCAN Working Group.: Prenatal detection of rare chromosomal autosomal abnormalities in Europe. AJMG DOI=10.1002/ajmg.a.10104; 118A:319-327, 2003. [PubMed: 12687662]
    del(2)(q37.2).
    Mother was 33 years old. MCA were noted at the time of live birth and not detected by ultrasound.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 2q-

  • Conrad B, Dewald G, Christensen E, Lopez M, Higgins J, Pierpont M E. : Clinical phenotype associated with terminal 2q37 deletion. Clin. Genet. 48:134-139, 1995. [PubMed: 8556820]
    Patients 2 and 3:
    46,XX and XY,del(2)(q37.2->qter)de novo.
    Both were 5 years old.
    Also see the entry under 02q371.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 2q-
    Positive band

  • Conroy J M, Grebe T A, Becker L A, Tsuchiya K, Nicholls R D, Buiting K, Horsthemke B, Cassidy S B, Schwartz S.: Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome. AJHG 61:388-394, 1997. [PMC free article: PMC1715912] [PubMed: 9311744]
    46,XY,t(2;15)(q37.2;q11.2)de novo
    The 4 year old patient has atypical PWS, ie behavioral problems started earlier and are more severe.
    Aberration: Reciprocal translocation
    MIM#: 176270
    Index Terms: Prader-Willi syndrome atypical

  • Davies A F, Kirby T L, Docherty Z, Ogilvie C M.: Characterization of terminal chromosome anomalies using multisubtelomere FISH. AJMG DOI=10.1002/ajmg.a.20056;120A:483-489, 2003. [PubMed: 12884426]
    Case LS:
    46,XX,der(2)t(2;5)(q37.2;q35.3).ish der(2)(D2S2983+,D2S2986-,D5S2097+).
    Patient was 16 years old with developmental delay, craniofacial anomalies, and obesity.
    Aberration: ST,TD
    Chromosomal Aneuploidy: 2q-;5q+

  • 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.

    Phelan M C, Rogers R C, Clarkson K B, Bowyer F P, Levine M A, Estabrooks L L, Severson M C, Dobyns W B.: Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals. AJMG 58:1-7, 1995. [PubMed: 7573148]
    Patient 1, T.C.:
    46,XX,del(2)(pter->q27.2).
    Patient 2, W.C.:
    46,XY,del(2)(pter->q27.2)de novo.
    Patient 4, C.G.:
    46,XX,-2,+der(2)(t(Y;2)(q11.2;q37.2 or 3)de novo.
    Aberration: TD,ST
    MIM#: 103580
    Chromosomal Aneuploidy: 2q-
    Index Terms: Albright Hereditary osteodystrophy
    Positive band

  • Fisher A M, Ellis K H, Browne C E, Barber J C K, Barker M, Kennedy C R, Foley H, Patton M A.: Small terminal deletions of the long arm of chromosome 2: two new cases. AJMG 53:366-369, 1994. [PubMed: 7532357]
    Hypotonia and psychomotor retardation were the common manifestations common to all the 6 cases reported so far.
    Patient A.W.
    46,XX,del(2)(pter->q37.2:)de novo.
    The patient was 11 years old and severely retarded.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 2q-
    Index Terms: Hypotonia
    Positive band

  • Gruchy N, Barreau M, Kessler K, Gourdier D, Leporrier N.: A paternally transmitted complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations (ITs) through three generations. AJMG Part A: 152A: 185-190, 2010. [PubMed: 20034065]
    The balanced complex insertion in the patient''s cousin:46,XX,der(2)ins(2;6)(q37.2;p22.2p22.2)ins(2;6)(q37.2;p21.1p12.3),der(6)ins(6;18)(p12.3;q21.32q21.32),der(18)inv ins(18;6)(q21.32;p22.2p21.1)ins(18;6)(q21.32;p12.3p12.3).,46,XX,der(2)(2pter->2q37.2::6p22.2->6p22.2::6p22.1->6p12.3::2q37.2->2qter,der(6)(6pter->6p22.2::18q21.32->18q21.32::6p12.3->6qter),der(18)(18pter->18q21.32::6p22.2->6p21.1::6p12.3::18q21.32->18qter).,Proband:46,XY,der(18)(18pter->18q21.32::6p22.2->6p21.1::6p12.3->6p12.3::18q21.32->18qter).
    A 28 year old with MCA , developmental problems and MR is presented.
    Aberration: CCR
    Chromosomal Aneuploidy: 6p+; 18q-

  • Lin S P, Petty E M, Gibson L H, Inserra J, Seashore M R, Yang-Feng T L: Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy. AJMG 44:500-502, 1992. [PubMed: 1442895]
    46,XY,del(2)(q37.2)de novo.
    The patient was 4 10/12 years old and a co-twin.
    cDNA probe of collagen type 6 alpha3 gene (COL6A3) was used.
    Aberration: Terminal deletion
    MIM#: 120250
    Chromosomal Aneuploidy: 2q-
    Positive band

  • 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 10:
    46,XY,del(2)(q37.2)de novo.
    The 2 year old was developmentally delayed.
    Aberration: Terminal deletion
    Index Terms: Telomeric sequences ... interstitial
    Positive band

  • Tengstrom C, Wilska M, Kahkonen M, Autio S, Leisti J: Partial trisomy 12q: clinical and cytogenetic observations. Clin. Genet. 28:112-117, 1985. [PubMed: 4042392]
    Proband was 6 years old.&"46,XY,-2,+der(2)t(2;12)(2pter -> 2q37.2::12q24.13 -> 12qter)pat."
    Individual I-1.
    46,XX,t(2;12)(q37;q24.13).
    Individual II-2.
    46,XY,der(2)der(12)t(2;12)(q37.3;q24.13)mat.
    Patient studied because of mental retardation, hypertonia and multiple congenital anomalies; and data on 12q partial trisomy phenotype have been reviewed.
    Aberration: Reciprocal translocation
    Index Terms: Hypertonia
    Positive band

  • Weise A, Starke H, Heller A, Tonnies H, Volleth M, Stumm M, Gabriele S, Nietzel A, Claussen U, Liehr T.: Chromosome 2 aberrations in clinical cases characterised by high resolution multicolor banding and region specific probes. J. Med. Genet. 39:434-439, 2002. [PMC free article: PMC1735147] [PubMed: 12070255]
    Case 4=
    GTG=46,XY,add(2)(q37).,MCB=46,XY,der(2)t(2;acro)(q37.2;p11.2)de novo
    The patient had anemia, brachydactyly E, and primary MR.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 2q-
    Index Terms: Multicolor banding (MCB)