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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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  • Ballif B C, Gajecka M, Shaffer L G.: Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions. Chromosome Res. 12:133-141, 2004. [PubMed: 15053483]
    Ballif B C, Kashork C D, Shaffer L G.: FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes. Europ. J. Hum. Genet. 8:764-770, 2000. [PubMed: 11039576]
    Ballif B C, Wakui K, Gajecka M, Shaffer L G.: Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements. Hum. Genet. DOI=10.1007/s00439-003-1029-y; 114:198-206, 2003. [PubMed: 14579147]
    Ballif B C, Yu W, Shaw C A, Kashork C D, Shaffer L G.: Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions. Hum. Mol. Genet. 12:2153-2165, 2003. [PubMed: 12915474]
    Gajecka M, Glotzbach C D, Shaffer L G.: Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1. Chromosome Res. 14: 277-282, 2006. [PubMed: 16628498]
    Heilstedt H A, Balif B C, Howard L A, Kashork C D, Shaffer L G.: Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality. Clin. Genet. 64:310-316, 2003. [PubMed: 12974736]
    Heilstedt H A, Ballif B C, Howard L A, Lewis R A, Stal S, Kashork C D, Bacino C A, Shapira S K, Shaffer L G.: Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. AJHG DOI=0002-9297/2003/7205; 72:1200-1212, 2003. [PMC free article: PMC1180272] [PubMed: 12687501]
    Shapira S K, McCaskill C, Northrup H, Spikes A S, Elder F F B, Sutton V R, Korenberg J R, Greenberg F, Shaffer L G. : Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. AJHG 61:642-650, 1997. [PMC free article: PMC1715949] [PubMed: 9326330]
    Slavotinek A, Shaffer L G, Shapira S K.: Monosomy 1p36. J. Med. Genet. 36:657-663, 1999. [PMC free article: PMC1734434] [PubMed: 10507720]
    Wu Y-Q, Heilstedt H A, Bedell J A, May K M, Starkey D E, McPherson J D, Shapira S K, Shaffer L G.: Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions. Hum. Mol. Genet. 8:313-321, 1999. [PubMed: 9931339]
    Yu W, Ballif B C, Kashork C D, Heilstedt H A, Howard L A, Cai W-W, White L D, Liu W, Beaudet A L, Bejjani B A, Chaw C A, Shaffer L G.: Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. Hum. Mol. Genet. 12:2145-2152, 2003. [PubMed: 12915473]
    Heilstedt et al evaluated data on 61 patients from 60 families. 60% of the deletions were de novo, with clustering of breakpoints.
    Gajecka et al (2006) work on patient 9 in Heilstedt et al (2003).
    14 patients were studied.
    Patients 1, 8 and 11:46,XX or XY,del(1)(p36.22).,Patients 2, 3, 6, 7, 9, 12 and 14:46,XX or XY,del(1)(p36.2).,Patient 13:46,XY,der(1)t(1;22)(p36.2;q13.3)pat.,Patient 5:46,XY,del(1)(p36.23).,Patient 4:46,XX,del(1)(p36.31).
    Characteristics include large anterior fontanelle (100%), motor delay/hypotonia (92%), moderate to severe MR (92%), growth delay (85%), pointed chin (80%), eye/vision problems (75%), seizures (72%), flat nasal bridge (65%), clinodactyly and/or short fifth finger(s) (64%), low-set ear(s) (59%), ear asymmetry (57%), hearing deficits (56%), abusive behavior (56%), thickened ear helices (53%), and deep-set eyes (50%).
    Ballif et al have re-interpretation of some of these cases, mostly interstitial and derivative from a translocation. In their 2003 article, Ballif et al suggest that, on a molecular level, seemingly pure terminal deletions visualized cytogenetically may be more complex, and BFB cycles may play an important role in generating terminal deletions associated with genetic disease in humans.
    In 1999, Wu et al, studied 30 cases. 28 were de novo deletions and 2 had complex rearrangements.
    Aberration: TD,ID,CT
    Chromosomal Aneuploidy: 1p-
    Index Terms: Array CGH
  • Barbi G, Kennerknecht I, Klett C: "Reciprocal translocation t(1;15)(p36.2;p11.2): confirmation of a suggestive cytogenetic diagnosis by in situ hybridization and clinical case report on resulting monosomy (1p)." AJMG 43:722-725, 1992. [PubMed: 1621764]
    Patient K.B.
    46,XX,t(1;15)(p36.2;p11.2)-mother.&"46,XX,-1,+der(1)t(1;15)(1qter -> 1p36.2::15p11.2 -> 15pter)mat."
    The newborn girl had generalized muscular hypotonia and minor anomalies.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1p-
    Positive band
  • Estop A M, Levinson F, Cieply K, Vankirk V: "The segregation of a translocation t(1;4) in two male carriers heterozygous for the translocation." Hum. Genet. 89:425-429, 1992. [PubMed: 1618491]
    Estop A M, Marquez C, Munne S, Navarro J, Cieply K, Van Kirk V, Martorell M R, Benet J, Templado C.: An analysis of human sperm chromosome breakpoints. AJHG 56:452-460, 1995. [PMC free article: PMC1801134] [PubMed: 7847382]
    A positive significant correlation was found between sperm breakpoints and sites of balanced chromosome de novo rearrangements detected at prenatal diagnosis.
    Two cousins with history of reproductive problems were studied.
    46,XY,t(1;4)(p36.2;q31.3)mat and pat.
    The wives had several miscarriages.
    Aberration: Reciprocal translocation
    Index Terms: Segregation ... translocation
    Positive band
  • Joyce C A, Dennis N R, Cooper S, Browne C E.: Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH. Hum. Genet. DOI=10.1007/s004390100588;109:440-451, 2001. [PubMed: 11702226]
    Case S9=46,XY,del(1)(p36.2)de novo
    Symmetrical IUGR, flattened broad nasal bridge, bilateral thumb anomalies, radial dysplasia, rockerbottom feet with overlapping toes.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 1p-
  • Steele M W, Wenger S L, Geweke L O, Golden W L: The level of 6-phosphogluconate dehydrogenase (6-PGD) activity in a patient with a 1p terminal deletion suggests that the gene locus is not distal to sub-band p36.3 on chromosome 1. Clin. Genet. 25:59-62, 1984. [PubMed: 6336317]
    45,XY,-1,-13,+t(1;13)(1qter -> 1p36.2::13p11.2 -> 13qter).&Parental karyotypes were normal.
    Aberration: Dicentric chromosome
    MIM#: 172200
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106076


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