A diagnostic survey of infants referred for chromosome analysis in the neonatal period.

Winter, R M; Ridler, M. A. C.; McKeown, J A

doi:10.1136/bmj.281.6247.1045

Cited by 7 publications

(4 citation statements)

References 5 publications

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“…[table/ Fig-7]: Comparison of the frequency of Chromosomal Aberrations of the Indian population of the present study with other Studies [2,[12][13][14][15][16][17][18][19][20][21].…”

Section: Down Syndrome Groupmentioning

confidence: 88%

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Cytogenetic Analysis for Suspected Chromosomal Abnormalities; A Five Years Experience

Polipalli¹

2016

JCDR

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“…[table/ Fig-7]: Comparison of the frequency of Chromosomal Aberrations of the Indian population of the present study with other Studies [2,[12][13][14][15][16][17][18][19][20][21].…”

Section: Down Syndrome Groupmentioning

confidence: 88%

“…Among various studies interestingly a variable pattern of DS is reported [5,[13][14][15][16]. The variation may be because of selected study populations.…”

Section: Down Syndrome Groupmentioning

confidence: 99%

Cytogenetic Analysis for Suspected Chromosomal Abnormalities; A Five Years Experience

Polipalli¹

2016

JCDR

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“…There are reports of children referred for cytogenetic examination for multiple congenital anomalies, excluding Down syndrome, with frequencies of chromosome abnormalities ranging from 11.9% to 27.6% [Winter et al, 1980;Verma and Dosik, 1980;Mehes and Bajnoczky, 1981;COCO and Penchaszadeh, 1982;Billerbeck, 19861. Yet, in those reports, there is no way of knowing the total number of births screened and they do not deal only with newborn infants.…”

Section: Discussionmentioning

confidence: 97%

Chromosome abnormalities in selected newborn infants with malformations in Brazil

Borovik¹,

Brunoni²,

Sato³

et al. 1989

Am. J. Med. Genet.

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Between 1982 and 1985, 109 infants were referred for cytogenetic examination out of a population of 73,192 liveborn infants from eight maternity hospitals surveyed by the ECLAMC/MONITOR program. Thirty-one of the children had a chromosome abnormality different from trisomy 21. Considering the total population surveyed, trisomy 18 was detected in 1:6,099; trisomy 13 was seen in 1:24,397 and unbalanced rearrangements were found in 1:7,319 infants. Those rates were not significantly different from the expected ones, as compared to previous cytogenetic surveys of consecutive births. We concluded that most chromosome abnormalities associated with congenital malformations can be detected at low cost, provided there is a high accuracy of clinical examination and referral criteria, as well as close cooperation between pediatricians and geneticists.

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“…Al-Arrayed discovered a frequency of 27% in 500 patients [13], Verma and Dosik found a frequency of 27.1 percent in 357 patients [6], and Singh found a frequency of 28.8 percent in 451 patients [5]. Winter et al, [14] (1980) found a frequency 43.0% in 140 patients. Mitra et al, [15] (1988) found a frequency 23.6%in 325 patients.…”

Section: Discussionmentioning

confidence: 99%

Chromosomal aberrations: A cytogenetic study of suspected cases in North Indian populations.

Kashayap¹,

Ranjan²,

Sarkar³

et al. 2022

Preprint

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Introduction Every year, a considerable number of children with genetic diseases are born in India over half a million with deformities, and another 21,000 with Down syndrome, owing to the country’s high birth rate. Recurrent abortions (12.4%), recognizable syndromes (12.1%), chromosomal anomalies (11.3%), and mental retardation were the top four diseases identified in multi-centric research findings on cases referred for genetic counseling (11%).ObjectiveTo study the prevalence of chromosomal anomalies in hospitals, captured suspected patients from the North Indian population.Material and MethodsBlood lymphocyte culture was used for metaphase chromosome preparation. The G-banded karyotypes of 244 suspected patients referred by IMS and BHU during the last five months (December 2021 to April 2022) were analyzed to study the chromosomal anomalies.Results Out of the all chromosomal abnormality, 64.58 % were cases of Down syndrome, and 14.58 % of the cases had Philadelphia chromosomes. 10.41 % had Klinefelter syndrome and 4.10% of cases are Turner. However, 2% of the cases were XXXY, X q arm deletion, and mosaic form. Based on these retrospective study observations, the prevalence of chromosomal anomalies in suspected hospitalized patients of the North Indian population was calculated as 19.67%.ConclusionThe prevalence of chromosomal anomalies in the north Indian population may differ greatly from data from the United States. Chromosomal abnormalities can be diagnosed and managed more quickly with cytogenetic testing methods.

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A diagnostic survey of infants referred for chromosome analysis in the neonatal period.

Abstract: Summary and conclusions

Cited by 7 publications

References 5 publications

Cytogenetic Analysis for Suspected Chromosomal Abnormalities; A Five Years Experience

Cytogenetic Analysis for Suspected Chromosomal Abnormalities; A Five Years Experience

Chromosome abnormalities in selected newborn infants with malformations in Brazil

Chromosomal aberrations: A cytogenetic study of suspected cases in North Indian populations.

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