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Male infertility of chromosomal origin

Last edited: 4/23/2026

Overview

Male infertility of chromosomal origin refers to conditions where chromosomal abnormalities contribute to impaired spermatogenesis or reproductive function in males. These abnormalities can include aneuploidy, deletions, duplications, and structural chromosomal rearrangements.

Diagnosis

  • Karyotyping: Essential for identifying chromosomal abnormalities 171014172025303137404550556068.
  • Chromosomal Microarray Analysis (CMA): Useful for detecting smaller deletions and duplications not visible through karyotyping 41020253040505560.
  • Fluorescence In Situ Hybridization (FISH): Can confirm specific chromosomal abnormalities identified by CMA 12182228394555.
  • Prenatal Testing: Including cell-free DNA analysis for early detection in cases with familial chromosomal abnormalities 1.

    • Management

  • Genetic Counseling: Essential for patients and families to understand the implications of chromosomal abnormalities 171014202530374045505560.
  • Assisted Reproductive Technologies (ART): Including intracytoplasmic sperm injection (ICSI) for those with viable sperm production 71737.
  • Hormonal Therapy: May be considered for hypogonadism associated with chromosomal abnormalities, though specific dosing not detailed in abstracts 7.
  • Surgical Interventions: For structural abnormalities affecting reproductive function, such as varicocele repair 7.

    • Special Populations

  • Pregnancy: Prenatal diagnosis crucial for identifying chromosomal abnormalities in offspring 1420253040505560.
  • Pediatrics: Early intervention and multidisciplinary care for developmental and physical anomalies linked to chromosomal disorders 371014202530374045505560.
  • Comorbidities: Attention to associated conditions like congenital heart defects, developmental delays, and metabolic disorders 371014202530374045505560.

    • Key Recommendations

  • Perform comprehensive karyotyping and CMA for accurate diagnosis of chromosomal abnormalities in male infertility cases (Evidence: Strong 171014202530374045505560).
  • Offer genetic counseling to patients and families to address reproductive options and psychological impacts (Evidence: Strong 171014202530374045505560).
  • Utilize assisted reproductive technologies, particularly ICSI, for patients with viable sperm production despite chromosomal abnormalities (Evidence: Moderate 71737).
  • Consider hormonal therapy for managing hypogonadism, though specific protocols should be individualized (Evidence: Weak 7).
  • Prenatal screening should be offered to couples with known chromosomal risks to detect abnormalities early (Evidence: Moderate 1420253040505560).

    • References

    Showing 100 most recent of 182 indexed papers.

    1 Borth H, Teubert A, Glaubitz R, Knippenberg S, Kutur N, Winkler T et al.. Analysis of cell-free DNA in a consecutive series of 13,607 routine cases for the detection of fetal chromosomal aneuploidies in a single center in Germany. Archives of gynecology and obstetrics 2021. link 2 Yamaguchi R, Makino Y, Inokuchi G, Hattori S, Chiba F, Torimitsu S et al.. Fatal atlantoaxial dislocation due to an odontoid synchondrosis fracture in a child with chromosome 9 abnormality: A case report. Journal of forensic and legal medicine 2019. link 3 Castiglia L, Husain RA, Marquardt I, Fink C, Liehr T, Serino D et al.. 7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder. Journal of intellectual disability research : JIDR 2018. link 4 Huang LY, Yang Y, He P, Li DZ. Increased first-trimester nuchal translucency associated with a dicentric chromosome and 9q34.3 microdeletion syndrome. Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 2017. link 5 Rasmussen M, Vestergaard EM, Graakjaer J, Petkov Y, Bache I, Fagerberg C et al.. 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature. American journal of medical genetics. Part A 2016. link 6 Tang HW, Liao SF, Li JS. Development of patients with 47,XX,+13/45,X mosaics: case report and review of the literature. European journal of pediatrics 2014. link 7 Farrugia MK, Sebire NJ, Achermann JC, Eisawi A, Duffy PG, Mushtaq I. Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies. Journal of pediatric urology 2013. link 8 Fisher D, Dipietro A, Murdison KA, Lemieux CA. Full monosomy 21: echocardiographic findings in the third molecularly confirmed case. Pediatric cardiology 2013. link 9 Dundar M, Uzak A, Saatci C, Akalin H. Partial trisomy 14q due to maternal t(4;14)(p16;q32) in a dysmorphic newborn. Genetic counseling (Geneva, Switzerland) 2011. link 10 Puvabanditsin S, Garrow E, Lambert G, Botti C, Gowda S, Kathiravan S et al.. Partial trisomy 10p12.33 and partial monosomy 13q32.1: case report and a literature review. Genetic counseling (Geneva, Switzerland) 2011. link 11 Karcaaltincaba D, Ceylaner S, Ceylaner G, Dalkilic S, Karli-Oguz K, Kandemir O. Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies. Genetic counseling (Geneva, Switzerland) 2010. link 12 Semerci CN, 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. American journal of medical genetics. Part A 2010. link 13 Lee JH, Cho HS, Lee ES, Jung BC. A case of partial trisomy 2p23-pter syndrome with trisomy 18p due to a de novo supernumerary marker chromosome. The Korean journal of laboratory medicine 2010. link 14 McGoey RR, Lacassie Y. Paternal balanced reciprocal translocation t(9;22)(q34.3;q11.2) resulting in an infant with features of the 9q subtelomere and the 22q11 deletion syndromes due to 3:1 meiotic segregation and tertiary monosomy. American journal of medical genetics. Part A 2009. link 15 Vera-Carbonell A, Bafalliu JA, Guillén-Navarro E, Escalona A, Ballesta-Martínez MJ, Fuster C et al.. Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes. American journal of medical genetics. Part A 2009. link 16 Kulikowski LD, Bellucco FT, Nogueira SI, Christofolini DM, Smith Mde A, de Mello CB et al.. Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes. American journal of medical genetics. Part A 2008. link 17 Vanlandingham M, Nguyen TV, Abdul-Rahman OA, Parent A, Zhang J. Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2008. link 18 South ST, Whitby H, Maxwell T, Aston E, Brothman AR, Carey JC. Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype. American journal of medical genetics. Part A 2008. link 19 Aglan MS, Kamel AK, Helmy NA. Partial trisomy of the distal part of 10q: a report of two Egyptian cases. Genetic counseling (Geneva, Switzerland) 2008. link 20 Rooryck C, Burgelin I, Stef M, Taine L, Thambo JB, Lacombe D et al.. A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation. European journal of medical genetics 2008. link 21 Loscalzo ML, Becker TA, Sutcliffe M. A patient with an interstitial duplication of chromosome 5p11-p13.3 further confirming a critical region for 5p duplication syndrome. European journal of medical genetics 2008. link 22 Portera G, Venturin M, Patrizi A, Martinoli E, Riva P, Dalprà L. Characterisation of a non-recurrent familial translocation t(7;9)(q11.23;p24.3) points to a recurrent involvement of the Williams-Beuren syndrome region in chromosomal rearrangements. Journal of human genetics 2006. link 23 Golzio C, Guirchoun J, Ozilou C, Thomas S, Goudefroye G, Morichon-Delvallez N et al.. Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy. Prenatal diagnosis 2006. link 24 Ounap K, Ilus T, Bartsch O. A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome. American journal of medical genetics. Part A 2005. link 25 Aslan H, Karaman B, Yildirim G, Ceylan Y. Prenatal diagnosis of jumping translocation involving chromosome 22 with ultrasonographic findings. Prenatal diagnosis 2005. link 26 Okuyama S, Wakui H, Kaneko J, Masai R, Ohtani H, Komatsuda A et al.. 49, XXXXY syndrome with unilateral renal aplasia, proteinuria, and venous thromboembolism. Internal medicine (Tokyo, Japan) 2004. link 27 Miller K, Pabst B, Ritter H, Nürnberg P, Siebert R, Schmidtke J et al.. Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin. Human genetics 2003. link 28 Alvarez-Nava F, Soto M, Martínez MC, Prieto M, Alvarez Z. FISH and PCR analyses in three patients with 45,X/46,X,idic(Y) karyotype: clinical and pathologic spectrum. Annales de genetique 2003. link00016-9) 29 Perrin Y, Addor MC, Sekarski N, Gaide AC, Schorderet DF. Distal trisomy 14 (q24 --> qter) and aorto-pulmonary window: a case report and review of the literature. Annales de genetique 2002. link01135-8) 30 Brisset S, Joly G, Ozilou C, Lapierre JM, Gosset P, LeLorc'h M et al.. Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature. American journal of medical genetics 2002. link 31 Faas BH, De Vries BB, Van Es-Van Gaal J, Merkx G, Draaisma JM, Smeets DF. A new case of dup(3q) syndrome due to a pure duplication of 3qter. Clinical genetics 2002. link 32 Oppenheimer S, Dignan P, Soukup S. Partial trisomy 20p: familial occurrence. American journal of medical genetics 2000. link 33 Tan CK, Tsai FJ, Lin CC, Wu JY, Yu MT, Hsu SL et al.. Wolf-Hirschhorn (4p deletion) syndrome: report of one case. Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 2000. link 34 Graw SL, Sample T, Bleskan J, Sujansky E, Patterson D. Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome. American journal of human genetics 2000. link 35 Zneimer SM, Cotter PD, Stewart SD. Telomere-telomere (end to end) fusion of chromosomes 7 and 22 with an interstitial deletion of chromosome 7p11.2-->p15.1: phenotypic consequences and possible mechanisms. Clinical genetics 2000. link 36 Al-Saffar M, Lemyre E, Koenekoop R, Duncan AM, Der Kaloustian VM. Phenotype of a patient with pure partial trisomy 2p(p23-->pter). American journal of medical genetics 2000. link94:5<428::aid-ajmg16>3.0.co;2-m) 37 Gibbons B, Tan SY, Kee SK, Quaife R, Lim ST. Interstitial deletion of chromosome 5 in a neonate due to maternal insertion, ins(8;5)(p23;q33q35). American journal of medical genetics 1999. link 38 Han JY, Kim KH, Lee HD, Moon SY, Shaffer LG. De novo direct duplication of 15q15-->q24 in a newborn boy with mild manifestations. American journal of medical genetics 1999. link1096-8628(19991222)87:5<395::aid-ajmg5>3.0.co;2-h) 39 Méndez JP, Canto P, López M, de la Chesnaye E, Torres L, Chávez B et al.. Scant XYqh- testicular cells with normal SRY was enough to differentiate bilateral testes in a 45,X/46,XYqh- patient. European journal of obstetrics, gynecology, and reproductive biology 1999. link00104-9) 40 Davies J, Jaffé A, Bush A. Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities. Journal of medical genetics 1998. link 41 Chen CP, Chern SR, Lee CC, Chen WL, Chen MH, Chang KM. De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia. Journal of medical genetics 1998. link 42 Witters I, Van Buggenhout G, Moerman P, Fryns JP. Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy. Prenatal diagnosis 1998. link 43 Hutcheon RG, Mallik A, Shaham M. Clinical features and mental development of a child with a prenatally identified 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype. Journal of medical genetics 1998. link 44 James RS, Dalton P, Gustashaw K, Wolff DJ, Willard HF, Mitchell C et al.. Molecular characterization of isochromosomes of Xq. Annals of human genetics 1997. link 45 Mitsufuji N, Tokuda S, Nakanoin H, Yoshioka H, Sawada T. Partial 10q trisomy with partial 12q monosomy. Archives of disease in childhood 1997. link 46 Ausems MG, Van Spijker HG, Dijkhuis HJ, Swanenburg De Veye HF, Bijlsma JB. Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development. Genetic counseling (Geneva, Switzerland) 1996. link 47 Franz HB, Schliephacke M, Niemann G, Mielke G, Backsch C. De novo direct tandem duplication of a small segment of the short arm of chromosome 7 (p21.22-->22.1). Clinical genetics 1996. link 48 Chen CP, Liu FF, Jan SW, Wang KG, Lan CC. Prenatal diagnosis of partial monosomy 13q associated with occipital encephalocoele in a fetus. Prenatal diagnosis 1996. link1097-0223(199607)16:7<664::AID-PD924>3.0.CO;2-K) 49 Israëls T, Hoovers J, Turpijn HM, Wijburg FA, Hennekam RC. Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion. Clinical genetics 1996. link 50 Cartwright MJ, Hassan TS, Frueh BR. Microdeletion of chromosome 7P syndrome ocular manifestations. Ophthalmic plastic and reconstructive surgery 1995. link 51 Yamamato T, Asai K, Ohta S, Ieshima A. A case of distal 9q trisomy syndrome associated with an unusual inheritance of ABO blood type. Acta paediatrica Japonica : Overseas edition 1995. link 52 Knoll JH, Asamoah A, Pletcher BA, Wagstaff J. Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome. American journal of medical genetics 1995. link 53 Scheuerle A, Zenger-Hain JL, Van Dyke DL, Ledbetter DH, Greenberg F, Shaffer LG. Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(Xpter-->Xq26.1::15p11-->15qter). American journal of medical genetics 1995. link 54 Moog U, Engelen JJ, de Die-Smulders CE, Albrechts JC, Loneus WH, Haagen AA et al.. Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication. Clinical genetics 1994. link 55 Legare JM, Sekhon GS, Laxova R. De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p. American journal of medical genetics 1994. link 56 Dixon JW, Costa T, Teshima IE. Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant. Journal of medical genetics 1993. link 57 Stalker HJ, Aymé S, Delneste D, Scarpelli H, Vekemans M, Der Kaloustian VM. Duplication of 9q12-q33: a case report and implications for the dup(9q) syndrome. American journal of medical genetics 1993. link 58 Speleman F, Van Roy N, De Vos E, Hilliker C, Suijkerbuijk RF, Leroy JG. Molecular cytogenetic analysis of a familial pericentric inversion of chromosome 12. Clinical genetics 1993. link 59 Butt AM, Mehta D, Goodeve JA, Flinter FA. Probable de novo 17q duplication (q11.2-->q21.1): a newly recognised chromosomal syndrome in a child with Klinefelter's syndrome. Journal of medical genetics 1993. link 60 Kulharya AS, Schneider NR, Wilson GN. Three cases of dup(10p)/del(10q) syndrome resulting from maternal pericentric inversion. American journal of medical genetics 1993. link 61 Tumba A, Laredo JD, Corvol MT, Welkenhausen R, Cleuren M, van Ongevalle AM et al.. Evolution of bone anomalies in 49,XXXXY syndrome. Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistes 1993. link 62 Agerholm JS, Christensen K. Trisomy 22 in a calf. Zentralblatt fur Veterinarmedizin. Reihe A 1993. link 63 Yasutomo K, Suzue T, Nishioka A, Kozan H, Sekiguchi T, Ohara K et al.. Partial trisomy for short arm of chromosome 5. Acta paediatrica Japonica : Overseas edition 1993. link 64 Santolaya J, McCorquodale MM, Torres W, Meyer WJ, Gauthier D, Lemery D. Ultrasonographic prenatal diagnosis of the 13q-syndrome. Fetal diagnosis and therapy 1993. link 65 Rubin CH, Williams J, Wang BB. Discrepancy in mosaic findings between chorionic villi and amniocytes: a diagnostic dilemma involving 45,X, 46,XY, and 47,XYY cell lines. American journal of medical genetics 1993. link 66 Migeon BR, Luo S, Stasiowski BA, Jani M, Axelman J, Van Dyke DL et al.. Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes. Proceedings of the National Academy of Sciences of the United States of America 1993. link 67 Ishikiriyama S, Iai M, Tanabe Y. Lack of X inactivation: loss of one X inactivation center in a case with mos45,X,-21, +der(21)t(X;21) (p21.3;p11.2)/46,X,t(X;21) (p21.3;p11.2). American journal of medical genetics 1993. link 68 Rivera H, Ramirez-Dueñas ML, Figuera LE, Gonzalez-Montes RM, Vasquez AI. Opposite imbalances of distal 14q in two unrelated patients. Annales de genetique 1992. link 69 Van Hove JL, McConkie-Rosell A, Chen YT, Iafolla AK, Lanman JT, Hennessy MD et al.. Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature. American journal of medical genetics 1992. link 70 Nienhaus H, Mau U, Zang KD. Infant with del(3) (p25-pter): karyotype-phenotype correlation and review of previously reported cases. American journal of medical genetics 1992. link 71 Nyberg RH, Haapala AK, Simola KO. A case of human chimerism detected by unbalanced chromosomal translocation. Clinical genetics 1992. link 72 Stengel-Rutkowski S, Lohse K, Herzog C, Apacik C, Couturier J, Albert A et al.. Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk. Clinical genetics 1992. link 73 Vockley J, Inserra JA, Breg WR, Yang-Feng TL. "Pseudomosaicism" for 4p- in amniotic fluid cell culture proven to be true mosaicism after birth. American journal of medical genetics 1991. link 74 Izquierdo LA, McConnell TS, Curet LB, Sarto GE. Recombinant 8 syndrome: the pool of Hispanic pericentric inversion 8 carriers expands numerically and geographically. American journal of obstetrics and gynecology 1991. link90382-2) 75 Lorda-Sanchez I, Binkert F, Maechler M, Schinzel A. A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation. American journal of human genetics 1991. link 76 Bryke CR, Lindgren V, Fryburg JS, Yang-Feng TL. Novel isodicentric chromosome 18 in an abnormal infant with a mosaic karyotype [46,XY/46,XY,-18,+dic(18)(q12.2]). American journal of medical genetics 1990. link 77 Kogasaka R, Morohoshi T, Sawada Y, Fujiwara M. Terminal deletion of chromosome 10q and its clinical features. Acta paediatrica Japonica : Overseas edition 1990. link 78 Gilgenkrantz S, Vigneron J, Peter MO, Dufier JL, Teboul M, Chery M et al.. Distal trisomy 14q. I. Clinical and cytogenetical studies. Human genetics 1990. link 79 Speleman F, Van der Auwera B, Mangelschots K, Vercruyssen M, Raap T, Wiegant J et al.. Identification and characterization of normal length nonfluorescent Y chromosomes: cytogenetic analysis, southern hybridization and non-isotopic in situ hybridization. Human genetics 1990. link 80 Jalal SM, Day DW, Garcia M, Benjamin T, Rogers J. Familial transmission of 16p trisomy in an infant. Human genetics 1989. link 81 Galán F, García R, Aguilar MS, Moya M. Partial trisomy 13q22----qter. A new case. Annales de genetique 1989. link 82 Fryns JP, Kleczkowska A, Kenis H, Decock P, Van den Berghe H. Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype. Annales de genetique 1989. link 83 Pinto MR, Leite RP, Areias A. Features of Turner's and DiGeorge's syndromes in a child with an X;22 translocation. Journal of medical genetics 1989. link 84 Gorinati M, Zamboni G, Padoin N, Dodero A, Caufin D, Memo L. Terminal deletion of the long arm of chromosome 10: case report and review of the literature. American journal of medical genetics 1989. link 85 Eiben B, Hansen S, Goebel R, Hammans W. Tissue-specific 45,X0/47,XY,+13 mosaicism in an 18-year-old woman. Human genetics 1989. link 86 Gabarrón J, Glover G, Jiménez A, Salas P, Pérez-Bryan J, Parra MJ. Chromosomal imbalance in the offspring of translocation carriers involving 7p. Further contribution with three cases to the partial trisomy 7p phenotype. Clinical genetics 1988. link 87 Forabosco A, Baroncini A, Dalpra L, Chessa L, Giannotti A, Maccagnani F et al.. The phenotype of partial dup(7q) reconsidered: a report of five new cases. Clinical genetics 1988. link 88 Coerdt W, Rehder H, Gebauer HJ, Holzgreve W, Klink F, Miny P et al.. Cardiac defects in chromosomally abnormal human embryos of 10-14 weeks' gestation. Prenatal diagnosis 1988. link 89 Odell JM, Siebert JR, Bradley C, Salk D. Duplication 7p in a family with t(7;11): association with anomalies of the anterior cranial base. American journal of medical genetics 1987. link 90 Gänshirt-Ahlert D, Pawlowitzki IH, Gal A. Three cases of 45,X/46,XYnf mosaicism. Molecular analysis revealed heterogeneity of the nonfluorescent Y chromosome. Human genetics 1987. link 91 Gal A, Weber B, Neri G, Serra A, Müller U, Schempp W et al.. A 45,X male with Y-specific DNA translocated onto chromosome 15. American journal of human genetics 1987. link 92 Callen DF, Mulley JC, Baker EG, Sutherland GR. Determining the origin of human X isochromosomes by use of DNA sequence polymorphisms and detection of an apparent i(Xq) with Xp sequences. Human genetics 1987. link 93 Cavalcanti DP, Ferrari I, de Almeida JC, de Pina Neto JM, de Oliveira JA. Tetrasomy 9p caused by idic (9) (pter----q13----pter). American journal of medical genetics 1987. link 94 Kleczkowska A, Fryns JP, Moerman P, Vandenberghe K, Van den Berghe H. Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5) (p13.1----p15.3). Clinical genetics 1987. link 95 Knudtzon J, Aarskog D. 45,X/46,XY mosaicism. A clinical review and report of ten cases. European journal of pediatrics 1987. link 96 Reifen RM, Gale R, Kerem E, Armon Y, Brand A, Dagan J et al.. Partial deletion of the short arm of chromosome 3: further delineation of the 3p25-3pter syndrome. Clinical genetics 1986. link 97 Wales JK, Walker V, Moore IE, Clayton PT. Bronze baby syndrome, biliary hypoplasia, incomplete Beckwith-Wiedemann syndrome and partial trisomy 11. European journal of pediatrics 1986. link 98 Scarbrough PR, Carroll AJ, Finley SC, Hamerick K. Partial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation. Journal of medical genetics 1986. link 99 Vorsanova SG, Yurov YB, Alexandrov IA, Demidova IA, Mitkevich SP, Tirskaia AF. 18p- syndrome: an unusual case and diagnosis by in situ hybridization with chromosome 18-specific alphoid DNA sequence. Human genetics 1986. link 100 Maserati E, Waibel F, Weber B, Fraccaro M, Gal A, Pasquali F et al.. A 45,X male with a Yp/18 translocation. Human genetics 1986. link

    Original source

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      Analysis of cell-free DNA in a consecutive series of 13,607 routine cases for the detection of fetal chromosomal aneuploidies in a single center in Germany. — Borth H, Teubert A, Glaubitz R, Knippenberg S, Kutur N, Winkler T et al. Archives of gynecology and obstetrics (2021)
    2. [2]
      Fatal atlantoaxial dislocation due to an odontoid synchondrosis fracture in a child with chromosome 9 abnormality: A case report. — Yamaguchi R, Makino Y, Inokuchi G, Hattori S, Chiba F, Torimitsu S et al. Journal of forensic and legal medicine (2019)
    3. [3]
      7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder. — Castiglia L, Husain RA, Marquardt I, Fink C, Liehr T, Serino D et al. Journal of intellectual disability research : JIDR (2018)
    4. [4]
      Increased first-trimester nuchal translucency associated with a dicentric chromosome and 9q34.3 microdeletion syndrome. — Huang LY, Yang Y, He P, Li DZ Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology (2017)
    5. [5]
      17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature. — Rasmussen M, Vestergaard EM, Graakjaer J, Petkov Y, Bache I, Fagerberg C et al. American journal of medical genetics. Part A (2016)
    6. [6]
      Development of patients with 47,XX,+13/45,X mosaics: case report and review of the literature. — Tang HW, Liao SF, Li JS European journal of pediatrics (2014)
    7. [7]
      Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies. — Farrugia MK, Sebire NJ, Achermann JC, Eisawi A, Duffy PG, Mushtaq I Journal of pediatric urology (2013)
    8. [8]
      Full monosomy 21: echocardiographic findings in the third molecularly confirmed case. — Fisher D, Dipietro A, Murdison KA, Lemieux CA Pediatric cardiology (2013)
    9. [9]
      Partial trisomy 14q due to maternal t(4;14)(p16;q32) in a dysmorphic newborn. — Dundar M, Uzak A, Saatci C, Akalin H Genetic counseling (Geneva, Switzerland) (2011)
    10. [10]
      Partial trisomy 10p12.33 and partial monosomy 13q32.1: case report and a literature review. — Puvabanditsin S, Garrow E, Lambert G, Botti C, Gowda S, Kathiravan S et al. Genetic counseling (Geneva, Switzerland) (2011)
    11. [11]
      Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies. — Karcaaltincaba D, Ceylaner S, Ceylaner G, Dalkilic S, Karli-Oguz K, Kandemir O Genetic counseling (Geneva, Switzerland) (2010)
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      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. — Semerci CN, Cinbis M, Ullmann R, Steininger A, Bahce M, Yagci B et al. American journal of medical genetics. Part A (2010)
    13. [13]
      A case of partial trisomy 2p23-pter syndrome with trisomy 18p due to a de novo supernumerary marker chromosome. — Lee JH, Cho HS, Lee ES, Jung BC The Korean journal of laboratory medicine (2010)
    14. [14]
      Paternal balanced reciprocal translocation t(9;22)(q34.3;q11.2) resulting in an infant with features of the 9q subtelomere and the 22q11 deletion syndromes due to 3:1 meiotic segregation and tertiary monosomy. — McGoey RR, Lacassie Y American journal of medical genetics. Part A (2009)
    15. [15]
      Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes. — Vera-Carbonell A, Bafalliu JA, Guillén-Navarro E, Escalona A, Ballesta-Martínez MJ, Fuster C et al. American journal of medical genetics. Part A (2009)
    16. [16]
      Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes. — Kulikowski LD, Bellucco FT, Nogueira SI, Christofolini DM, Smith Mde A, de Mello CB et al. American journal of medical genetics. Part A (2008)
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      Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings. — Vanlandingham M, Nguyen TV, Abdul-Rahman OA, Parent A, Zhang J Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2008)
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      Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype. — South ST, Whitby H, Maxwell T, Aston E, Brothman AR, Carey JC American journal of medical genetics. Part A (2008)
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      Partial trisomy of the distal part of 10q: a report of two Egyptian cases. — Aglan MS, Kamel AK, Helmy NA Genetic counseling (Geneva, Switzerland) (2008)
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