monosomy

Summary

Summary: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.

Top Publications

  1. Courtens W, Wauters J, Wojciechowski M, Reyniers E, Scheers S, van Luijk R, et al. A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review. Clin Dysmorphol. 2007;16:231-9 pubmed
    ..We review the clinical phenotype of these patients. We suggest that patients with a subterminal (11q24.2/25-qter) deletion may present with features of the well-known phenotype of terminal 11q deletion or Jacobsen syndrome...
  2. Bronkhorst I, Maat W, Jordanova E, Kroes W, Schalij Delfos N, Luyten G, et al. Effect of heterogeneous distribution of monosomy 3 on prognosis in uveal melanoma. Arch Pathol Lab Med. 2011;135:1042-7 pubmed publisher
    Fluorescence in situ hybridization (FISH) analyses on tumor sections and on isolated nuclei showed that even low numbers of cells with monosomy of chromosome 3 adversely affected survival.
  3. Marathe O, Wu J, Lee S, Yu F, Burgess B, Leu M, et al. Ocular response of choroidal melanoma with monosomy 3 versus disomy 3 after iodine-125 brachytherapy. Int J Radiat Oncol Biol Phys. 2011;81:1046-8 pubmed publisher
    To report the ocular response of choroidal melanoma with monosomy 3 vs. disomy 3 after (125)I brachytherapy.
  4. Faas B, de Leeuw N, Mieloo H, Bruinenberg J, de Vries B. Further refinement of the candidate region for monosomy 9p syndrome. Am J Med Genet A. 2007;143A:2353-6 pubmed
  5. Posmyk R, Panasiuk B, Yatsenko S, Stankiewicz P, Midro A. A natural history of a child with monosomy 5p syndrome (Cat-cry/Cri-du-chat syndrome) during the 18 years of follow-up. Genet Couns. 2005;16:17-25 pubmed
    A record of a natural history of a long-term case study devoted to monosomy 5p (Cat-cry/Cri-du-chat) syndrome has been described rarely...
  6. Invernizzi P, Miozzo M, Selmi C, Persani L, Battezzati P, Zuin M, et al. X chromosome monosomy: a common mechanism for autoimmune diseases. J Immunol. 2005;175:575-8 pubmed
    ..hormones, it has been suggested, based on pilot data in primary biliary cirrhosis, that there is an elevation of monosomy X in autoimmune disease...
  7. Kulikowski L, Christ L, Nogueira S, Brunoni D, Schwartz S, Melaragno M. Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 --> pter and partial trisomy 1q41 --> qter suggests neo-telomere formation in stabilizing the deleted chromosome. Am J Med Genet A. 2006;140:82-7 pubmed
    ..the karyotype was defined as 46,XX,del(9)(p23)[54]/46,XX,der(9)t(1;9)(q41;p23)[46], indicating the presence of monosomy 9p23 in all cells and trisomy 1q41 in approximately 50% of the cells...
  8. Midena E, Bonaldi L, Parrozzani R, Radin P, Boccassini B, Vujosevic S. In vivo monosomy 3 detection of posterior uveal melanoma: 3-year follow-up. Graefes Arch Clin Exp Ophthalmol. 2008;246:609-14 pubmed
    b>Monosomy 3 is a highly specific marker for poor prognosis in posterior uveal melanoma. Unfortunately, cytogenetic prognostication is limited to enucleated eyes or resected tumors...
  9. Cheng P, Shaw S, Shih J, Soong Y. Monozygotic twins discordant for monosomy 21 detected by first-trimester nuchal translucency screening. Obstet Gynecol. 2006;107:538-41 pubmed
    ..Chromosomal abnormality in one fetus of a monozygotic twin pregnancy is rare, and discussion of prenatal detection of such a case offers some insight into this clinical problem...

More Information

Publications62

  1. Nguyen H, Riess A, Kruger M, Bauer P, Singer S, Schneider M, et al. Mosaic trisomy 21/monosomy 21 in a living female infant. Cytogenet Genome Res. 2009;125:26-32 pubmed publisher
    ..The single exception may be monosomy 21, although this has been questioned, with most earlier reports of monosomy 21 recently re-interpreted as being ..
  2. Trolet J, Hupe P, Huon I, Lebigot I, Decraene C, Delattre O, et al. Genomic profiling and identification of high-risk uveal melanoma by array CGH analysis of primary tumors and liver metastases. Invest Ophthalmol Vis Sci. 2009;50:2572-80 pubmed publisher
    ..The purpose of this study was to analyze genomic profiles in a large series of ocular tumors and liver metastases and design a genome-based classifier for metastatic risk assessment...
  3. Mensink H, Vaarwater J, Kilic E, Naus N, Mooy N, Luyten G, et al. Chromosome 3 intratumor heterogeneity in uveal melanoma. Invest Ophthalmol Vis Sci. 2009;50:500-4 pubmed publisher
    To investigate the presence of focal or diffuse heterogeneity of monosomy 3 in uveal melanoma, by using fluorescence in situ hybridization (FISH).
  4. Navarro J, Feliu E, Grau J, Espinet B, Colomer D, Ribera J, et al. Monosomy 7 with severe myelodysplasia developing during imatinib treatment of Philadelphia-positive chronic myeloid leukemia: two cases with a different outcome. Am J Hematol. 2007;82:849-51 pubmed
    ..Trisomy 8 is the most frequent, but monosomy 7 has also been described...
  5. Grasshoff U, Singer S, Liehr T, Starke H, Fode B, Schoning M, et al. A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q13-->q24.1 and partial monosomy 4q27-->q28 [corrected]. Cytogenet Genome Res. 2003;103:17-23 pubmed
    ..through a son presenting with MR/CM due to an unbalanced karyotype with partial trisomy 14 and partial monosomy 4. The child has a healthy elder brother. In the family history no abortions were reported...
  6. Maat W, Ly L, Jordanova E, de Wolff Rouendaal D, Schalij Delfos N, Jager M. Monosomy of chromosome 3 and an inflammatory phenotype occur together in uveal melanoma. Invest Ophthalmol Vis Sci. 2008;49:505-10 pubmed publisher
    In uveal melanoma, different predictors of poor prognosis have been identified, including monosomy of chromosome 3, HLA expression, and the presence of infiltrating leukocytes and macrophages...
  7. MacKinnon R, Campbell L. Dicentric chromosomes and 20q11.2 amplification in MDS/AML with apparent monosomy 20. Cytogenet Genome Res. 2007;119:211-20 pubmed publisher
    FISH analysis of 41 previously karyotyped cases of MDS and AML with apparent monosomy of chromosome 20 revealed a variety of dicentric abnormalities involving chromosome 20...
  8. Isik U, Basaran S, Dehgan T, Apak M. Corpus callosum agenesis in trisomy 8p11.23 and monosomy 4q34 because of maternal translocation. Pediatr Neurol. 2008;39:55-7 pubmed publisher
    We report on a 3-year-old boy with partial trisomy 8 p11.23-->pter and partial monosomy 4q34-->qter, associated with developmental delay, complete agenesis of the corpus callosum, and mild dysmorphic features...
  9. Rudnik Schoneborn S, Zerres K, Hausler M, Lott A, Krings T, Schüler H. A new case of proximal monosomy 1p36, extending the phenotype. Am J Med Genet A. 2008;146A:2018-22 pubmed publisher
  10. Katzenstein J, Oghalai J, Tonini R, Baker D, Haymond J, Caudle S. Neurocognitive functioning of a child with partial trisomy 6 and monosomy 21. Neurocase. 2009;15:97-100 pubmed publisher
    ..study describes the neurocognitive presentation of a child with identified genetic abnormalities of trisomy 6 and monosomy 21 who was evaluated as part of a standard medical protocol for cochlear implantation following diagnosis of ..
  11. Semerci C, Cinbis M, Ullmann R, Steininger A, Bahce M, Yagci B, et al. Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome. Am J Med Genet A. 2010;152A:1724-9 pubmed publisher
    We report on a patient with partial monosomy 6p and partial trisomy 12q identified by fluorescent in situ hybridization (FISH) and array-based comparative genomic hybridization (aCGH)...
  12. Rosenfeld J, Crolla J, Tomkins S, Bader P, Morrow B, GORSKI J, et al. Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions. Am J Med Genet A. 2010;152A:1951-9 pubmed publisher
    b>Monosomy 1p36 is the most common terminal deletion syndrome seen in humans, occurring in approximately 1 in 5,000 live births...
  13. Migdalska A, van der Weyden L, Ismail O, White J, Sanchez Andrade G, Logan D, et al. Modeling partial monosomy for human chromosome 21q11.2-q21.1 reveals haploinsufficient genes influencing behavior and fat deposition. PLoS ONE. 2012;7:e29681 pubmed publisher
    Haploinsufficiency of part of human chromosome 21 results in a rare condition known as Monosomy 21...
  14. Li C, Mahajan V, Wang J, Paes B. Monosomy 3pter-p25.3 and trisomy 1q42.13-qter in a boy with profound growth and developmental restriction, multiple congenital anomalies, and early death. Pediatr neonatol. 2013;54:202-6 pubmed publisher
    Albeit rare, 3pter-p25 monosomy or 1q42-qter trisomy syndromes have been documented in the literature...
  15. Hashino S, Fujisawa F, Kondo T, Imamura M, Sato K, Torimoto Y, et al. Donor-type myelodysplastic syndrome with t(2;3) and monosomy 7 after allogeneic peripheral blood stem cell transplantation and liver transplantation in a patient with severe-type aplastic anemia. Int J Hematol. 2006;84:363-6 pubmed
    ..We report a case of myelodysplastic syndrome that showed cytogenetic abnormalities of t(2;3) and monosomy 7, which developed 2 years after peripheral blood stem cell transplantation for aplastic anemia and 1 year after ..
  16. Davies W, Humby T, Isles A, Burgoyne P, Wilkinson L. X-monosomy effects on visuospatial attention in mice: a candidate gene and implications for Turner syndrome and attention deficit hyperactivity disorder. Biol Psychiatry. 2007;61:1351-60 pubmed
    ..The loss of all, or part of an X chromosome, in Turner syndrome (TS, 45,XO) results in deficits in attentional functioning...
  17. Torisu H, Yamamoto T, Fujiwaki T, Kadota M, Oshimura M, Kurosawa K, et al. Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1). Am J Med Genet A. 2004;131:94-8 pubmed
    We report on a girl with monosomy 1p36.3 and Angelman syndrome due to an unbalanced transmission of a maternal balanced chromosomal translocation...
  18. Midena E, Bonaldi L, Parrozzani R, Tebaldi E, Boccassini B, Vujosevic S. In vivo detection of monosomy 3 in eyes with medium-sized uveal melanoma using transscleral fine needle aspiration biopsy. Eur J Ophthalmol. 2006;16:422-5 pubmed
    Cytogenetic prognostication of choroidal melanoma, particularly monosomy 3 detections, is limited to enucleated eyes or resected tumors...
  19. Nareyeck G, Zeschnigk M, Prescher G, Lohmann D, Anastassiou G. Establishment and characterization of two uveal melanoma cell lines derived from tumors with loss of one chromosome 3. Exp Eye Res. 2006;83:858-64 pubmed
    ..50% of UM patients die of metastases, which mainly arise from primary tumors with loss of an entire chromosome 3 (monosomy 3)...
  20. Makishima H, Rataul M, Gondek L, Huh J, Cook J, Theil K, et al. FISH and SNP-A karyotyping in myelodysplastic syndromes: improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q). Leuk Res. 2010;34:447-53 pubmed publisher
  21. Sun S, Luo F, Song H, He J, Peng Y. Distal trisomy of 10q with distal monosomy of 15q due to a paternal translocation. J Int Med Res. 2009;37:1230-7 pubmed
    ..The neonate had a partial trisomy of the long arm of chromosome 10 with a partial monosomy of distal 15q...
  22. Bursztejn A, Bronner M, Peudenier S, Grégoire M, Jonveaux P, Nemos C. Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy. Am J Med Genet A. 2009;149A:2493-500 pubmed publisher
    b>Monosomy 1p36 is the most frequent terminal deletion known in Humans. Typical craniofacial features, developmental delay/mental retardation, seizures and sensorineural defects characterize 1p36 deletion syndrome...
  23. Mori M, Lapunzina P, Delicado A, Núñez G, Rodriguez J, de Torres M, et al. A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findings. Am J Med Genet A. 2004;127A:69-73 pubmed
    We report on a patient with a full monosomy 21 (FM21) prenatally diagnosed in cord fetal blood, and subsequently confirmed in other tissues...
  24. Meir T, Zeschnigk M, Masshöfer L, Pe er J, Chowers I. The spatial distribution of monosomy 3 and network vasculogenic mimicry patterns in uveal melanoma. Invest Ophthalmol Vis Sci. 2007;48:1918-22 pubmed
    b>Monosomy of chromosome 3 and network vasculogenic mimicry patterns are associated with death in patients with uveal melanoma (UM)...
  25. Qiu H, Xue Y, Zhang J, Pan J, Dai H, Wu Y, et al. Establishment and characterization of a new human acute myelocytic leukemia cell line SH-2 with a loss of Y chromosome, a derivative chromosome 16 resulting from an unbalanced translocation between chromosomes 16 and 17, monosomy 17, trisomy 19, and . Exp Hematol. 2008;36:1487-95 pubmed publisher
    ..To report here a new acute myelocytic leukemia (AML) cell line SH-2 and describe its biological characteristics...
  26. Roberson E, Wohler E, Hoover Fong J, Lisi E, Stevens E, Thomas G, et al. Genomic analysis of partial 21q monosomies with variable phenotypes. Eur J Hum Genet. 2011;19:235-8 pubmed publisher
    Partial monosomy 21 was recently segregated into three regions associated with variable clinical severity. We describe 10 new patients, all examined by single nucleotide polymorphism (SNP) genotyping and G-banded karyotyping...
  27. van den Bosch T, Van Beek J, Vaarwater J, Verdijk R, Naus N, Paridaens D, et al. Higher percentage of FISH-determined monosomy 3 and 8q amplification in uveal melanoma cells relate to poor patient prognosis. Invest Ophthalmol Vis Sci. 2012;53:2668-74 pubmed publisher
    ..the relation between patient survival and incrementally increasing percentages of fluorescence in situ hybridization-determined complete loss of chromosome 3 (monosomy 3) and gain of chromosome 8q in primary uveal melanoma cells.
  28. Fisher D, DiPietro A, Murdison K, Lemieux C. Full monosomy 21: echocardiographic findings in the third molecularly confirmed case. Pediatr Cardiol. 2013;34:733-5 pubmed publisher
    b>Monosomy 21 is a rare chromosomal abnormality, with only nine cases reported in the literature. Affected infants display multiple dysmorphic features as well as skeletal, ocular, pulmonary, cardiac, renal, and genitourinary abnormalities...
  29. Besson V, Brault V, Duchon A, Togbe D, Bizot J, Quesniaux V, et al. Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses. Hum Mol Genet. 2007;16:2040-52 pubmed
    b>Monosomy 21 is a rare human disease due to gene dosage errors disturbing a variety of physiological and morphological systems including brain, skeletal, immune and respiratory functions...
  30. Campeau P, Ah Mew N, Cartier L, Mackay K, Shaffer L, Der Kaloustian V, et al. Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature. Am J Med Genet A. 2008;146A:3062-9 pubmed publisher
    b>Monosomy 1p36 is an increasingly recognized chromosomal anomaly. We describe two patients with monosomy 1p36 who had brain abnormalities detected on prenatal ultrasound...
  31. Olson L, Richtsmeier J, Leszl J, Reeves R. A chromosome 21 critical region does not cause specific Down syndrome phenotypes. Science. 2004;306:687-90 pubmed
    ..The DSCR genes were not sufficient and were largely not necessary to produce the facial phenotype. These results refute specific predictions of the prevailing hypothesis of gene action in DS...
  32. Zhang L, Rothman N, Li G, Guo W, Yang W, Hubbard A, et al. Aberrations in chromosomes associated with lymphoma and therapy-related leukemia in benzene-exposed workers. Environ Mol Mutagen. 2007;48:467-74 pubmed
    ..Aneuploidy (both monosomy and trisomy) of all seven chromosomes was increased by benzene exposure...
  33. Aronow M, Sun Y, Saunthararajah Y, Biscotti C, Tubbs R, Triozzi P, et al. Monosomy 3 by FISH in uveal melanoma: variability in techniques and results. Surv Ophthalmol. 2012;57:463-73 pubmed publisher
    Tumor monosomy 3 confers a poor prognosis in patients with uveal melanoma...
  34. Sloand E, Yong A, Ramkissoon S, Solomou E, Bruno T, Kim S, et al. Granulocyte colony-stimulating factor preferentially stimulates proliferation of monosomy 7 cells bearing the isoform IV receptor. Proc Natl Acad Sci U S A. 2006;103:14483-8 pubmed
    Granulocyte colony-stimulating factor (GCSF) administration has been linked to the development of monosomy 7 in severe congenital neutropenia and aplastic anemia...
  35. Porta G, Maserati E, Mattarucchi E, Minelli A, Pressato B, Valli R, et al. Monosomy 7 in myeloid malignancies: parental origin and monitoring by real-time quantitative PCR. Leukemia. 2007;21:1833-5 pubmed
  36. Utine G, Aktas D, Boduroglu K, Alikasifoglu M, Tuncbilek E. Coexistent mosaic monosomy 21 and fragile X syndrome in a mentally retarded male patient. Genet Couns. 2007;18:171-7 pubmed
    ..b>Monosomy 21 is a rare cytogenetic aberration for which clinical features were incompletely defined since full monosomy 21 ..
  37. Gajecka M, Mackay K, Shaffer L. Monosomy 1p36 deletion syndrome. Am J Med Genet C Semin Med Genet. 2007;145C:346-56 pubmed
    b>Monosomy 1p36 results from a heterozygous deletion of the most distal chromosomal band on the short arm of chromosome 1...
  38. Kawara H, Yamamoto T, Harada N, Yoshiura K, Niikawa N, Nishimura A, et al. Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23. Am J Med Genet A. 2006;140:373-7 pubmed
    A 2-year-old boy with clinical manifestations of monosomy 9p syndrome and brown hair is described...
  39. Invernizzi P, Miozzo M, Battezzati P, Bianchi I, Grati F, Simoni G, et al. Frequency of monosomy X in women with primary biliary cirrhosis. Lancet. 2004;363:533-5 pubmed
    ..We assessed the rate of X monosomy in peripheral white blood cells from 100 women with PBC, 50 with chronic hepatitis C, and 50 healthy controls, by ..
  40. Hansson C, Buckley P, Grigelioniene G, Piotrowski A, Hellström A, Mantripragada K, et al. Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus. BMC Genomics. 2007;8:16 pubmed
    ..The NF2 locus was also comprehensively studied for point mutations within coding and conserved non-coding sequences. Furthermore, CpG methylation within the NF2 promoter region was thoroughly analyzed...
  41. Young T, Burgess B, Rao N, Gorin M, Straatsma B. High-density genome array is superior to fluorescence in-situ hybridization analysis of monosomy 3 in choroidal melanoma fine needle aspiration biopsy. Mol Vis. 2007;13:2328-33 pubmed
  42. Cohn A, Kearns L, Savarirayan R, Ryan J, Craig J, Mackey D. Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter. Ophthalmic Genet. 2005;26:45-53 pubmed
    To present a case of congenital glaucoma with an unbalanced translocation trisomy 8q22-qter/monosomy 9p23-pter, resulting in trisomy of the GLC1D locus. To perform a literature review of chromosomal abnormalities associated with glaucoma.
  43. Sevilla J, Querol S, Molines A, Gonzalez Vicent M, Balas A, Carrió A, et al. Transient donor cell-derived myelodysplastic syndrome with monosomy 7 after unrelated cord blood transplantation. Eur J Haematol. 2006;77:259-63 pubmed
    ..We describe the early onset of monosomy 7 in donor cells after cord blood transplantation in a patient diagnosed with myelodysplastic syndrome 3 months ..
  44. Stein S, Ott M, Schultze Strasser S, Jauch A, Burwinkel B, Kinner A, et al. Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. Nat Med. 2010;16:198-204 pubmed publisher
    ..showed silencing of transgene expression due to methylation of the viral promoter, and myelodysplasia with monosomy 7 as a result of insertional activation of ecotropic viral integration site 1 (EVI1)...
  45. Sandinha T, Farquharson M, McKay I, Roberts F. Correlation of heterogeneity for chromosome 3 copy number with cell type in choroidal melanoma of mixed-cell type. Invest Ophthalmol Vis Sci. 2006;47:5177-80 pubmed
    ..To study heterogeneity for chromosome 3 copy number in mixed choroidal melanoma with discrete populations of spindle and epithelioid cells using chromosome in situ hybridization (CISH) and to correlate chromosomal loss with cell type...
  46. Afifi H, Zaki M, El Gerzawy A, Kayed H. Distal 11q monosomy syndrome: a report of two Egyptian sibs with normal parental karyotypes confirmed by molecular cytogenetics. Genet Couns. 2008;19:47-58 pubmed
    Jacobsen syndrome is a rare disorder, caused by segmental monosomy for the distal end of the long arm of chromosome 11 with variable phenotypic expressivity...
  47. Damato B, Coupland S. Translating uveal melanoma cytogenetics into clinical care. Arch Ophthalmol. 2009;127:423-9 pubmed publisher
    ..To report our experience in translating uveal melanoma cytogenetics to routine clinical practice...
  48. Puvabanditsin S, Garrow E, Patel N, D Elia A, Zaafran A, Phattraprayoon N, et al. Choroid plexus hyperplasia and monosomy 1p36: report of new findings. J Child Neurol. 2008;23:922-5 pubmed publisher
    b>Monosomy 1p36 is a newly delineated multiple congenital anomalies/mental retardation syndrome characterized by mental retardation, growth delay, epilepsy, congenital heart defects, characteristic facial appearance, and precocious puberty...
  49. Aktas D, Tuncbilek E. Myelodysplastic syndrome associated with monosomy 7 in childhood: a retrospective study. Cancer Genet Cytogenet. 2006;171:72-5 pubmed
    ..b>Monosomy 7 or partial loss of 7q is a common cytogenetic abnormality in MDS patients and is associated with poor prognosis...
  50. Bartocci A, Striano P, Mancardi M, Fichera M, Castiglia L, Galesi O, et al. Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features. Brain Dev. 2008;30:425-9 pubmed publisher
    ..e., karyotype and array-CGH analysis) revealed a distal trisomy 4p and distal monosomy Xq...
  51. Young T, Burgess B, Rao N, Glasgow B, Straatsma B. Transscleral fine-needle aspiration biopsy of macular choroidal melanoma. Am J Ophthalmol. 2008;145:297-302 pubmed
    ..To report transscleral 30-gauge fine-needle aspiration biopsy (FNAB) for cytology and cytogenetics in eyes with macular choroidal melanoma...
  52. Sepulveda W. Monosomy 18p presenting with holoprosencephaly and increased nuchal translucency in the first trimester: report of 2 cases. J Ultrasound Med. 2009;28:1077-80 pubmed
    The purpose of this series is to describe the first-trimester sonographic findings leading to the diagnosis of monosomy 18p.
  53. Van P, Bakalov V, Bondy C. Monosomy for the X-chromosome is associated with an atherogenic lipid profile. J Clin Endocrinol Metab. 2006;91:2867-70 pubmed
    ..To determine whether X-chromosomal gene dosage affects lipid metabolism independent of sex steroid effects, we compared lipid profiles in age- and body mass-matched young women with ovarian failure, differing only in X-chromosome dosage...