Al Husain M, Zaki OK (1999) A survey of 1,000 cases referred for cytogenetic study to King Khalid University Hospital, Saudi Arabia. Hum Hered 49:208–214. https://doi.org/10.1159/000022877

Article  PubMed  CAS  Google Scholar 

Aula P, Leisti J, von Koskull H (1973) Partial trisomy 21. Clin Genet 4:241–251

Article  CAS  Google Scholar 

Balkan M, Akbas H, Isi H, Oral D, Turkyılmaz A, Kalkanli S, Simsek S, Fidanboy M, Alp MN, Gedik A, Budak T (2010) Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey. Genet Mol Res 9:1094–1103. https://doi.org/10.4238/vol9-2gmr827

Article  PubMed  CAS  Google Scholar 

Bassett AS (1992) Chromosomal aberrations and schizophrenia. Br J Psychiatry 161:323–334

Article  CAS  Google Scholar 

Bohîlţea RE, Cîrstoiu MM, Nedelea FM, Turcan N, Georgescu TA, Munteanu O, Baroş A, Anca Maria Istrate-Ofiţeru AMI, Berceanu C (2020) Case report of a novel phenotype in 18q deletion syndrome. Rom J Morphol Embryol 61:905–910. https://doi.org/10.47162/RJME.61.3.29

Article  PubMed  Google Scholar 

Bouguenouch L, Trhanint S, Otmani I, Kettani O, Ahakoud M, Qebibo L, Moufid FZ, Chaouki S, Hida M, Ouldim K (2019) Chromosomal abnormalities of 1200 patients in FEZ HASSAN II University Hospital. Saudi J Biomed Res 4:226–231. https://doi.org/10.21276/sjbr.2019.4.5.5

Article  Google Scholar 

Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D (1998) A chromosomal deletion map of human malformations. Am J Hum Genet 63:1153–1159. https://doi.org/10.1086/302041

Article  PubMed  PubMed Central  CAS  Google Scholar 

Budisteanu M, Arghir A, Chirieac SM, Tutulan-Cunit A, Lungeanu A (2010) 18q deletion syndrome - a case report. Maedica (bucur) 5:135–138

Google Scholar 

Butler MG, Hamill T (1995) Blood specimens from patients referred for cytogenetic analysis: Vanderbilt University experience from 1985 to 1992. South Med J 88:309–314

Article  CAS  Google Scholar 

Chen CC, Lee CC, Chang TY, Town DD, Wang W (2004) Prenatal diagnosis of mosaic distal 5p deletion and review of the literature. Prenat Diagn 24:50–57. https://doi.org/10.1002/pd.794

Article  PubMed  Google Scholar 

Clancy S, Shaw K (2008) DNA deletion and duplication and the associated genetic disorders. Nature Education 1:23

Google Scholar 

D’Angelo CS, Varela MC, Castro CID, Kim CA, Bertola DR, Lourenço CM, Ana Beatriz A, Perez ABA, Koiffmann CP (2014) Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes. Mol Cytogenet 7:75. https://doi.org/10.1186/s13039-014-0075-6

Article  PubMed  PubMed Central  CAS  Google Scholar 

Datta A, Picker J, Rotenberg A (2010) Trisomy 8 mosaicism and favorable outcome after treatment of infantile spasms: case report. J Child Neurol 25:1275–1277. https://doi.org/10.1177/0883073809357361

Article  PubMed  Google Scholar 

Demirhan O, Pazarbasi A, Suleymanova-Karahan D, Tanriverdi N, Kilinc Y (2008) Correlation of clinical phenotype with a pericentric inversion of chromosome 9 and genetic counseling. Saudi Med J 29:946–951

PubMed  Google Scholar 

Demirhan O, Tanrıverdi N, Süleymanova D (2016) Chromosomal aberrations in Turkish infertile couples with reproductive problems. Glob J Fertil Res 1:006–010

Article  Google Scholar 

Duarte AC, Cunha E, Roth JM, Ferreira FL, Garcias GL, Martino-Roth MG (2004) Cytogenetics of genetic counseling patients in Pelotas, Rio Grande do Sul, Brazil. Genet Mol Res 3:303–308

PubMed  CAS  Google Scholar 

Elkarhat Z, Kindil Z, Zarouf L, Razoki L, Aboulfaraj J, Elbakay C, Nassereddine S, Nasser B, AbdelhamidBarakat A, Rouba H (2019) Chromosomal abnormalities in couples with recurrent spontaneous miscarriage: a 21-year retrospective study, a report of a novel insertion, and a literature review. J Assist Reprod Genet 36:499–507. https://doi.org/10.1007/s10815-018-1373-4

Article  PubMed  Google Scholar 

Elsheikh M, Dunger DB, Conway GS, Wass JAH (2002) Turner’s syndrome in adulthood. Endocr Rev 23:120–140. https://doi.org/10.1210/edrv.23.1.0457

Article  PubMed  CAS  Google Scholar 

Flynn H, Yan J, Saravelos SH, Li TC (2014) Comparison of reproductive outcome, including the pattern of loss, between couples with chromosomal abnormalities and those with unexplained repeated miscarriages. J Obstet Gynaecol Res 40:109–116. https://doi.org/10.1111/jog.12133

Article  PubMed  Google Scholar 

Fryns JP (1982) Klinefelter syndrome and the Xqll-22 region. Clin Genet 20:237. https://doi.org/10.1111/j.1399-410004.1981.tb01838.x

Article  Google Scholar 

Gardner R, Sutherland G, Shaffer L (2012) Chromosome abnormalities and genetic Counseling, 4th edn. Oxford University Press, New York

Google Scholar 

Güzel AI, Demirhan O, Pazarbasi A, Ozgunen FT, Kocaturk-Sel S, Tastemir D (2009) Detection of parental origin and cell stage errors of a double nondisjunction in a fetus by QF-PCR. Genet Test Mol Biomarkers 13:73–77. https://doi.org/10.1089/gtmb.2008.0054

Article  PubMed  CAS  Google Scholar 

Iselius L, Lindsten J (1986) Changes in the incidence of Down syndrome in Sweden during 1968–1982. Hum Genet 72:133–139

Article  CAS  Google Scholar 

Jafari-Ghahfarokhi H, Moradi-Chaleshtori M, Liehr T, Hashemzadeh-Chaleshtori M, Teimori H, Ghasemi-Dehkordi P (2015) Small supernumerary marker chromosomes and their correlation with specific syndromes. Adv Biomed Res 4:140. https://doi.org/10.4103/2277-9175.161542

Article  PubMed  PubMed Central  CAS  Google Scholar 

Jaruratanasirikul S, Jinorose U (1994) An infant with double trisomy (48, XXX,+18). Am J Med Genet 49:207–210. https://doi.org/10.1002/ajmg.1320490210

Article  PubMed  CAS  Google Scholar 

Jeong SY, Kim BY, Yu JE (2010) De novo pericentric inversion of chromosome 9 in congenital anomaly. Yonsei Med J 51:775–780. https://doi.org/10.3349/ymj.2010.51.5.775

Article  PubMed  PubMed Central  Google Scholar 

Kim SR, Shaffer LG (2002) Robertsonian translocations: mechanisms of formation, aneuploidy, and uniparental disomy and diagnostic considerations. Genet Test 6:163–168. https://doi.org/10.1089/109065702761403315

Article  PubMed  CAS  Google Scholar 

Kim SS, Jung SC, Kim HJ, Moon HR, Lee JS (1999) Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases. J Korean Med Sci 14:373–376. https://doi.org/10.3346/jkms.1999.14.4.373

Article  PubMed  PubMed Central  CAS  Google Scholar 

Kim YJ, Lee JE, Kim SH, Shim SS, DH, (2013) Maternal age-specific rates of fetal chromosomal abnormalities in Koreanpregnant women of advanced maternal age. Obstet Gynecol Sci 56:160–166. https://doi.org/10.5468/ogs.2013.56.3.160

Article  PubMed  PubMed Central  Google Scholar 

Kolgeci S, Kolgeci J, Azemi M, Shala-Beqiraj R, Gashi Z, Sopjani M (2013) Cytogenetic study in children with Down syndrome among Kosova Albanian population between 2000 and 2010. Mat Sociomed 25:131–135. https://doi.org/10.5455/msm.2013.25.131-135

Article  Google Scholar 

Kovaleva NV, Butomo IV (1996) Sexual Mode and down Syndrome // Problemy Reprodukcii 2:59–61

Google Scholar 

Kovaleva NV, Butomo IV (2002) Reroductive behavior and Down syndrome. Tsitol Genet 36:53–58

PubMed  CAS  Google Scholar 

Kovaleva NV, Mutton DE (2005) Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes. Am J Med Genet A 134A:24–32. https://doi.org/10.1002/ajmg.a.30306

Article  PubMed  Google Scholar 

Kovaleva NV, Butomo IV, Körblein A (2001) Sex ratio in Down syndrome. Studies in patients with confirmed trisomy 21. Tsitol Genet 35:43–49

PubMed  CAS  Google Scholar 

Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E (2004) Klinefelter’s syndrome. Lancet 364:273–283. https://doi.org/10.1016/S0140-6736(04)16678-6

Article  PubMed  CAS  Google Scholar 

Linden MG, Bender BG, Robinson A (1995) Sex chromosome tetrasomy and pentasomy. Pediatrics 96:672–682

Article  CAS  Google Scholar 

Lorda-Sanchez MB, Petersen F, Binkert M, Maechler M, Schmid W, Adelsberger PA, Antonarakis SE, Schinzel A (1991) A 48, XXY,+21 Down syndrome patient with additional paternal X and maternal 21. Hum Genet 87:54–56. https://doi.org/10.1007/BF01213092

Article  PubMed  CAS  Google Scholar 

Mao S, Sun LMD, Tu M, Zou C, Wang X (2015) Cytogenetic and clinical features in children suspected with congenital abnormalities in 1 Medical Center of Zhejiang Province from 2011 to 2014. Medicine (Baltimore) 94:e1857. https://doi.org/10.1097/MD.0000000000001857

Article  Google Scholar 

Mikkelsen M (1977) Down syndrome: cytogenetical epidemiology. Hereditas 86:45–50

Article  CAS  Google Scholar 

Mikkelsen M (1988) The incidence of Down’s syndrome and progress towards its reduction. Phil Trans R Soc Lond B Biol Sci 319:315–324. https://doi.org/10.1098/rstb.1988.0053

Article  CAS  Google Scholar 

Mikkelsen M, Poulsen H, Tommerup N (1989) Genetic risk factors in human trisomy 21. Prog Clin Biol Res 311:183–197

PubMed  CAS  Google Scholar 

Mulcahy MT (1979) Down’s syndrome in Western Australia: cytogenetics and incidence. Hum Genet 48:67–72. https://doi.org/10.1007/BF00273276

Mutton D, Alberman E, Hook EB (1996) Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists. J Med Genet 33:387–394. https://doi.org/10.1136/jmg.33.5.387

Article  PubMed  PubMed Central  CAS