Cytogenetic study on 282 patients with suspected chromosomal aberration

Milia, A; Cardia, S.; Aste, A.; Santucci, S.; Genazzani, Ar; Mameli, M.

doi:10.1016/0028-2243(84)90118-7

Cited by 5 publications

(5 citation statements)

References 8 publications

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“…The frequency of chromosomal anomalies was considerably higher than that related to an unselected population (0.5-0.6%) (Hamerton et al, 1975;Hook and Hamerton, 1977;Patil et al, 1977), and it was also higher than the 6.3% by Solak et al (2007), while it was similar to 14.3% by Butler and Hamill (1995) and the 13.4% by Al Husain and Zaki (1999), and smaller than the 21.6% found by Milia et al (1984), the 27.2% found by Verma and Dosik (1980), 28.6% by Santos et al (2000), and 29.3% by Duarte et al (2004). The differences in the frequencies of the chromosomal abnormalities among these studies could explain increased interest in genetic diseases by physicians and reflect variations in criteria for inclusion of the patients and the cytogenetic methods used and discordance of classification criteria (Kim et al, 1999).…”

Section: Discussionmentioning

confidence: 62%

“…This value is reported as 7.4% (Yuce et al, 2007), 4.2% (Solak et al, 2007), 9.8% (Tunç et al, 2007), and 9.8% (Duzcan et al, 2003) in similar studies in Turkey, and 8.3% (Milia et al, 1984), 7.2% (Chandley, 1990), 8.1% (Méhes and Bajnoczky, 1981), and 7.4% (Al Husain and Zaki, 1999) in other countries.…”

Section: Discussionmentioning

confidence: 83%

“…Chromosome analysis is an important component to the diagnosis and evaluation of genetic disorders including congenital anomalies, developmental delay, and intellectual disability (Méhes and Bajnoczky, 1981;Milia et al, 1984;Butler and Hamill, 1995;Al Husain and Zaki, 1999;Kim et al, 1999;Duarte et al, 2004;Goud et al, 2005;Solak et al, 2007). Approximately 1000 chromosome syndromes that make a major contribution to human morbidity and mortality have been reported so far (Goud et al, 2005).…”

Section: Introductionmentioning

confidence: 99%

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Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey

Balkan¹,

Akbas²,

Isi³

et al. 2010

Genet. Mol. Res.

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ABSTRACT.We reviewed cytogenetic studies performed on 4216 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbair, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The frequencies of the different types of numerical and structural abnormalities were determined, and the relative frequency of cases with abnormal karyotypes was calculated in each group. The most common reason for requesting cytogenetic testing was referral for Down syndrome and for repeated abortions. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8%). Among the chromosomal abnormalities, sexual chromosomal abnormalities were found in 239 cases (17.6%), and Klinefelter syndrome was the most frequent sex chromosomal abnormality. Autosomal abnormalities were found in 1119 cases (82.4%), and Down syndrome was the most frequent autosomal chromosomal Chromosomal abnormalities in Southeast Turkey abnormality. In conclusion, the high rate of chromosomal abnormalities (32.2%) found in this population demonstrates the importance of cytogenetic evaluation in patients who show clinical abnormalities. This is the first report on cytogenetic testing in the southeast region of Turkey. This type of study provides a basis for determining the risks of recurrence and for deciding on clinical treatment and genetic counseling.

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Section: Discussionmentioning

confidence: 62%

Section: Discussionmentioning

confidence: 83%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey

Balkan¹,

Akbas²,

Isi³

et al. 2010

Genet. Mol. Res.

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“…Other reasons for the difference in prevalence reported in these studies may be due to the varied inclusion criteria of patients, the cytogenetic methods used and the discordance of classification criteria. [5] Both adults and children were included in other studies [3,5,9,[12][13][14] and only few were conducted exclusively among children suspected of chromosomal disorders. [15,16] The majority of chromosomal abnormalities observed in this study were numerical abnormalities (45.9%).…”

Section: Discussionmentioning

confidence: 99%

Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children

Thillainathan¹,

Sirisena

Kariyawasam³

et al. 2014

World J Pediatr

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“…This population showed a significantly higher incidence of chromosome anomalies (21.6%) than an unselected population (0.5-0.6%). 6 Verma RS et al report in 1980 describes the cytogenetic findings in 357 cases referred for suspected chromosomal abnormalities because of abnormal clinical features. Chromosomal anomalies were found in 27.2% of the cases studied.…”

Section: Positivementioning

confidence: 99%

Predictors of Risk for Abnormal Karyotype in Dysmorphic Children

Ravi¹,

Narendran²,

Jose³

2019

jebmh

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BACKGROUND Chromosomal anomalies occur in 0.4% of live births. The phenotypic anomalies that result from chromosomal aberrations have multiple minor face-and limb-anomalies. These assume diagnostic significance in combination. Major congenital defects can be defined, rather arbitrarily, as those abnormalities that if uncorrected, impair normal body function or reduce life expectancy. Most babies with two major anomalies or one major and two minor anomalies or three or more minor anomalies have a dysmorphic syndrome. This study aimed at analysing the clinical and karyotypic profile of a section of dysmorphic children presenting in a tertiary care centre and to correlate the dysmorphology with the results of karyotyping. The aim of the study is to assess the clinical and karyotypic profile of a group of children with congenital anomalies and dysmorphic facies attending OPD and IP of the Department of Paediatrics, SATH, TVM Medical College. MATERIALS AND METHODS Children who were enrolled were evaluated using a detailed proforma to analyse the clinical profile. Then 2-4 ml venous blood was collected in sodium heparinised vacutainer with aseptic precautions and sent for karyotyping. 53 children referred with multiple anomalies, failure to thrive, dysmorphic facies, abnormal dermatoglyphics and other major and minor anomalies were included in the study. RESULTS Of the 53 dysmorphic children screened, 73.58% had abnormal karyotype. This included numerical autosomal anomalies (50.9%), numerical sex chromosomal anomalies (3.77%), structural autosomal chromosomal anomalies (7.54%) or structural sex chromosomal anomalies (3.77%). There were 3 cases of Fanconi's anaemia and a case of fragile X syndrome in the sample. CONCLUSION Among the 53 children, 73.58% had an abnormal karyotype. Those with two major anomalies or one major and two minor anomalies or three minor anomalies were included in the study. One major anomaly may not be indicative of a chromosomal anomaly whereas association of various major and minor anomalies may indicate a chromosomal defect. As karyotyping and further studies to detect chromosomal anomalies are expensive, selection of cases was based on inclusion criteria yields a high positivity rate.

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Cytogenetic study on 282 patients with suspected chromosomal aberration

Cited by 5 publications

References 8 publications

Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey

Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey

Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children

Predictors of Risk for Abnormal Karyotype in Dysmorphic Children

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