RESUMEN
OBJECTIVE: To analyze the frequency of del22q11.2 in non-syndromic CHDs using classical cytogenetics and Fluorescence In Situ Hybridization (FISH) technique in Indian population. METHODS: 105 prospective cases which included 6 families with isolated, non-syndromic cardiac defects were analyzed clinically by a cardiologist and a geneticist. The cases were then subjected to karyotypic (classical cytogenetics) as well as FISH analysis. The efficacy of FISH technique was compared with inference drawn from classical cytogenetics. RESULTS: Karyotypic analysis of all the 105 patients revealed a normal chromosomal complement. Microdeletion 22q11.2 was observed in six patients (5.71%) by FISH studies. FISH studies were also performed on the parents of these six patients who revealed a normal chromosome 22. No correlation was found between clinical features (mild or unspecific) with 22q11.2 microdeletion. CONCLUSION: The testing for microdeletion 22q11.2 in isolated non-syndromic patients using FISH technique is mandatory even when mild/unspecific extracardiac abnormalities are seen in the patients.
Asunto(s)
Adolescente , Adulto , Niño , Preescolar , Deleción Cromosómica , Cromosomas Humanos Par 22 , Cardiopatías Congénitas/genética , Humanos , Hibridación Fluorescente in Situ , Lactante , Recién Nacido , CariotipificaciónRESUMEN
OBJECTIVE: To study the overall frequency of congenital malformations in a city hospital in the first three days of life. METHODS: 17,653 consecutive newborns were examined and diagnosed at a maternity hospital by pediatricians and geneticists. Relevant information was documented on a predesigned proforma and analyzed. RESULTS: Of the 17,653 births 294 (1; 6%) had major malformations and 1400 (7.92%) had minor malformations. Amongst 17,653 births 328 (1.8%) were stillbirths. Malformations were highest in this group. Polygenic traits accounted for 45.1% while chromosomal etiology was found in 4%. A genetic basis was found in 65.4% of cases. CONCLUSION: With emphasis on ''small family '' norms & population control it is necessary to identify malformations so that Interventional programmes can be planned.
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Anomalías Congénitas/epidemiología , Humanos , Recién Nacido , Vigilancia de la Población , Estudios ProspectivosRESUMEN
Non-mosaic Trisomy 22 is the second most common autosomal trisomy found in spontaneous abortions but relatively uncommon in live births. We report a case of non mosaic trisomy 22 surviving till late infancy. The unique phenotype was microcephaly, large eyes with anti mongoloid slants, mild hypertelorism, broad depressed nasal bridge, large prominent bulbous nasal tip anteverted nostrils, long philtrum, small mouth with down turned corners, microretrognathia cleft palate and preauricular tags. Systemic examination showed a ventricular septal defect. The probands karyotype was 47, XX, der(15)t (15;22) (p12;q13),+der(22)mat. This karyotype is as the result of 3:1 interchange segregation in the mother who is a carrier of a balanced translocation. The proband had inherited two derivative chromosomes and extra chromosome from the mother besides one 22 from the father. This is known as interchange trisomy. We report the first such case from India discussing the possible reason for the late survivor of this usually lethal anomaly.